Human (GRCh38.p14)
Description

cystathionine beta-synthase [Source:HGNC Symbol;Acc:HGNC:1550]

Gene Synonyms

HIP4

Location

Chromosome 21: 43,050,900-43,076,943 reverse strand.

GRCh38:CM000683.2

About this gene

This gene has 68 transcripts (splice variants), 280 orthologues, 5 paralogues and is associated with 3 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000398165.8CBS-2042495551aaENSP00000381231.4
 
Protein coding
CCDS13693P35520-1 NM_000071.3MANE SelectEnsembl CanonicalGENCODE PrimaryGENCODE BasicTSL:1
ENST00000886722.1CBS-2374762551aaENSP00000556781.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000886703.1CBS-2183392551aaENSP00000556762.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000886725.1CBS-2403166551aaENSP00000556784.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000886709.1CBS-2243060551aaENSP00000556768.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000886708.1CBS-2233040551aaENSP00000556767.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000886724.1CBS-2393033551aaENSP00000556783.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000886707.1CBS-2222960551aaENSP00000556766.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000886720.1CBS-2352910551aaENSP00000556779.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000886706.1CBS-2212815623aaENSP00000556765.1
 
Protein coding
--GENCODE BasicAPPRIS P1
ENST00000939294.1CBS-2562778551aaENSP00000609353.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000886719.1CBS-2342751640aaENSP00000556778.1
 
Protein coding
--GENCODE Basic
ENST00000886727.1CBS-2422741551aaENSP00000556786.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000939297.1CBS-2592737634aaENSP00000609356.1
 
Protein coding
--GENCODE Basic
ENST00000886728.1CBS-2432735551aaENSP00000556787.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000886726.1CBS-2412723551aaENSP00000556785.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000939292.1CBS-2542716626aaENSP00000609351.1
 
Protein coding
--GENCODE Basic
ENST00000886721.1CBS-2362702551aaENSP00000556780.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000939298.1CBS-2602683551aaENSP00000609357.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000939300.1CBS-2622683640aaENSP00000609359.1
 
Protein coding
--GENCODE Basic
ENST00000961048.1CBS-2672682551aaENSP00000631107.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000886711.1CBS-2262680551aaENSP00000556770.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000886704.1CBS-2192660551aaENSP00000556763.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000961049.1CBS-2682656623aaENSP00000631108.1
 
Protein coding
--GENCODE BasicAPPRIS P1
ENST00000939299.1CBS-2612645551aaENSP00000609358.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000939285.1CBS-2472629551aaENSP00000609344.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000961046.1CBS-2652624575aaENSP00000631105.1
 
Protein coding
--GENCODE Basic
ENST00000886705.1CBS-2202620551aaENSP00000556764.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000939288.1CBS-2502605551aaENSP00000609347.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000352178.9CBS-2012583551aaENSP00000344460.5
 
Protein coding
CCDS13693P35520-1 -GENCODE BasicTSL:1
ENST00000886710.1CBS-2252580551aaENSP00000556769.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000961044.1CBS-2632571551aaENSP00000631103.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000939295.1CBS-2572570578aaENSP00000609354.1
 
Protein coding
--GENCODE Basic
ENST00000939287.1CBS-2492559551aaENSP00000609346.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000886716.1CBS-2312543551aaENSP00000556775.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000939286.1CBS-2482543480aaENSP00000609345.1
 
Protein coding
--GENCODE Basic
ENST00000939289.1CBS-2512532563aaENSP00000609348.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000886713.1CBS-2282525548aaENSP00000556772.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000886729.1CBS-2442504569aaENSP00000556788.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000939293.1CBS-2552484551aaENSP00000609352.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000886731.1CBS-2462477551aaENSP00000556790.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000886730.1CBS-2452464551aaENSP00000556789.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000398158.5CBS-2032453551aaENSP00000381225.1
 
Protein coding
CCDS13693P35520-1 -GENCODE BasicTSL:1
ENST00000961045.1CBS-2642413506aaENSP00000631104.1
 
Protein coding
--GENCODE Basic
ENST00000886712.1CBS-2272412551aaENSP00000556771.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000961047.1CBS-2662411551aaENSP00000631106.1
 
Protein coding
CCDS13693--GENCODE Basic
ENST00000886718.1CBS-2332409525aaENSP00000556777.1
 
Protein coding
--GENCODE Basic
ENST00000886714.1CBS-2292398506aaENSP00000556773.1
 
Protein coding
--GENCODE Basic
ENST00000359624.7CBS-2022353551aaENSP00000352643.3
 
Protein coding
CCDS13693P35520-1 -GENCODE PrimaryGENCODE BasicTSL:1
ENST00000939291.1CBS-2532342480aaENSP00000609350.1
 
Protein coding
--GENCODE Basic
ENST00000886715.1CBS-2302307480aaENSP00000556774.1
 
Protein coding
--GENCODE Basic
ENST00000939296.1CBS-2582238480aaENSP00000609355.1
 
Protein coding
--GENCODE Basic
ENST00000886717.1CBS-2322056406aaENSP00000556776.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000939290.1CBS-2521982380aaENSP00000609349.1
 
Protein coding
--GENCODE Basic
ENST00000886723.1CBS-2381817520aaENSP00000556782.1
 
Protein coding
--GENCODE Basic
ENST00000430013.1CBS-205828224aaENSP00000405929.1
 
Protein coding
H7C2H4 -TSL:5CDS 5' incomplete
ENST00000441030.5CBS-206819177aaENSP00000388235.1
 
Protein coding
C9JMA6 -TSL:5CDS 3' incomplete
ENST00000458223.5CBS-208676159aaENSP00000408014.1
 
Protein coding
H7C2W0 -TSL:3CDS 5' incomplete
ENST00000451248.5CBS-207573149aaENSP00000402823.1
 
Protein coding
H7C1W6 -TSL:5CDS 5' incomplete
ENST00000470912.5CBS-212894No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000478709.1CBS-213727No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000465732.5CBS-211683No protein-
 
Protein coding CDS not defined
--TSL:2
ENST00000488526.1CBS-215672No protein-
 
Protein coding CDS not defined
--TSL:2
ENST00000461686.5CBS-2092656No protein-
 
Retained intron
--TSL:1
ENST00000491776.1CBS-2161515No protein-
 
Retained intron
--TSL:3
ENST00000462349.5CBS-2101038No protein-
 
Retained intron
--TSL:2
ENST00000486098.1CBS-214773No protein-
 
Retained intron
--TSL:2
ENST00000496485.1CBS-217673No protein-
 
Retained intron
--TSL:2