Human (GRCh38.p14)
Description

mannose-P-dolichol utilization defect 1 [Source:HGNC Symbol;Acc:HGNC:7207]

Gene Synonyms

CDGIF, LEC35, PQLC5, SL15, SLC66A5

Location
About this transcript

This transcript has 7 exons, is annotated with 16 domains and features, is associated with 2273 variant alleles and maps to 427 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000250124.11MPDU1-2011416247aaENSP00000250124.6
 
Protein coding
CCDS11115O75352-1 NM_004870.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000396501.8MPDU1-2031125192aaENSP00000379758.4
 
Protein coding
CCDS82054J3QW43 -GENCODE basicTSL:2
ENST00000423172.6MPDU1-204888186aaENSP00000414071.2
 
Protein coding
O75352-2 -GENCODE basicTSL:2
ENST00000582151.1MPDU1-22372852aaENSP00000462500.1
 
Protein coding
J3KSI4 -GENCODE basicTSL:NA
ENST00000579445.5MPDU1-218582193aaENSP00000464158.1
 
Protein coding
J3QRD5 -TSL:3CDS 3' incomplete
ENST00000584378.5MPDU1-224475154aaENSP00000462839.1
 
Protein coding
J3KT75 -TSL:4CDS 3' incomplete
ENST00000581380.1MPDU1-221456152aaENSP00000463966.1
 
Protein coding
J3QQZ4 -TSL:3CDS 5' and 3' incomplete
ENST00000585217.5MPDU1-227438116aaENSP00000463037.1
 
Protein coding
J3KTK8 -TSL:3CDS 5' incomplete
ENST00000572936.5MPDU1-211110261aaENSP00000459306.1
 
Nonsense mediated decay
I3L1D2 -TSL:5
ENST00000571822.5MPDU1-207102061aaENSP00000458741.1
 
Nonsense mediated decay
I3L1D2 -TSL:2
ENST00000572719.5MPDU1-209917109aaENSP00000459498.1
 
Nonsense mediated decay
I3L295 -TSL:5
ENST00000574558.1MPDU1-21290032aaENSP00000461499.1
 
Nonsense mediated decay
I3L4T1 -TSL:3CDS 5' incomplete
ENST00000359822.10MPDU1-20284061aaENSP00000352876.6
 
Nonsense mediated decay
I3L1D2 -TSL:3
ENST00000576272.5MPDU1-21580954aaENSP00000460864.1
 
Nonsense mediated decay
I3L405 -TSL:2CDS 5' incomplete
ENST00000580834.5MPDU1-220714109aaENSP00000463056.1
 
Nonsense mediated decay
I3L295 -TSL:5
ENST00000570458.5MPDU1-20559161aaENSP00000459409.1
 
Nonsense mediated decay
I3L261 -TSL:3CDS 5' incomplete
ENST00000584479.5MPDU1-225572109aaENSP00000462229.1
 
Nonsense mediated decay
I3L295 -TSL:2
ENST00000580708.5MPDU1-219563101aaENSP00000464524.1
 
Nonsense mediated decay
J3QS48 -TSL:5
ENST00000576066.5MPDU1-21449175aaENSP00000461183.1
 
Nonsense mediated decay
I3L4E0 -TSL:3
ENST00000577088.5MPDU1-2161645No protein-
 
Retained intron
--TSL:2
ENST00000572836.5MPDU1-2101523No protein-
 
Retained intron
--TSL:2
ENST00000571877.1MPDU1-2081195No protein-
 
Retained intron
--TSL:1
ENST00000581886.5MPDU1-222924No protein-
 
Retained intron
--TSL:3
ENST00000585188.5MPDU1-226863No protein-
 
Retained intron
--TSL:3
ENST00000571391.5MPDU1-206677No protein-
 
Retained intron
--TSL:2
ENST00000578267.5MPDU1-217582No protein-
 
Retained intron
--TSL:3
ENST00000575256.1MPDU1-213392No protein-
 
Retained intron
--TSL:3
Statistics

Exons: 7, Coding exons: 7, Transcript length: 1,416 bps, Translation length: 247 residues

MANE

This MANE Select transcript contains ENSP00000250124 and matches to NM_004870.4 and NP_004861.2

Uniprot

This transcript corresponds to the following Uniprot identifiers: O75352

CCDS

This transcript is a member of the Human CCDS set: CCDS11115

Transcript Support Level (TSL)

TSL:1

Version

ENST00000250124.11

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.