Description

fukutin related protein [Source:HGNC Symbol;Acc:HGNC:17997]

Synonyms

MDC1C, LGMD2I

Location
About this transcript

This transcript has 4 exons, is annotated with 6 domains and features, is associated with 631 variations and maps to 331 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
FKRP-201ENST00000318584.93332495aaENSP00000326570
 
Protein coding
CCDS12691A0A024R0R7 Q9H9S5 NM_001039885
NM_024301
NP_001034974
NP_077277
TSL:1GENCODE basicAPPRIS P1
FKRP-202ENST00000391909.72801495aaENSP00000375776
 
Protein coding
CCDS12691A0A024R0R7 Q9H9S5 -TSL:2GENCODE basicAPPRIS P1
FKRP-205ENST00000593877.16334aaENSP00000472850
 
Protein coding
---CDS 3' incompleteTSL:2
FKRP-225ENST00000601299.5633162aaENSP00000470103
 
Protein coding
-M0QYV8 -CDS 3' incompleteTSL:4
FKRP-219ENST00000600629.559780aaENSP00000470096
 
Protein coding
-M0QYV4 -CDS 3' incompleteTSL:4
FKRP-204ENST00000593875.559386aaENSP00000470297
 
Protein coding
-M0QZ46 -CDS 3' incompleteTSL:4
FKRP-216ENST00000598271.559229aaENSP00000471088
 
Protein coding
-M0R092 -CDS 3' incompleteTSL:4
FKRP-203ENST00000593800.5591101aaENSP00000471209
 
Protein coding
-M0R0G0 -CDS 3' incompleteTSL:4
FKRP-213ENST00000597313.558459aaENSP00000472370
 
Protein coding
-M0R274 -CDS 3' incompleteTSL:5
FKRP-209ENST00000595570.558361aaENSP00000470929
 
Protein coding
-M0R016 -CDS 3' incompleteTSL:3
FKRP-206ENST00000593902.1577137aaENSP00000470901
 
Protein coding
-M0R005 -CDS 3' incompleteTSL:4
FKRP-211ENST00000596460.556968aaENSP00000469373
 
Protein coding
-M0QXT8 -CDS 3' incompleteTSL:4
FKRP-227ENST00000602250.556953aaENSP00000472807
 
Protein coding
-M0R2U3 -CDS 3' incompleteTSL:4
FKRP-218ENST00000600227.5559106aaENSP00000468825
 
Protein coding
-M0QX03 -CDS 3' incompleteTSL:4
FKRP-210ENST00000595868.555670aaENSP00000471573
 
Protein coding
-M0R112 -CDS 3' incompleteTSL:2
FKRP-222ENST00000600834.555172aaENSP00000470024
 
Protein coding
-M0QYR2 -CDS 3' incompleteTSL:4
FKRP-217ENST00000600005.5548114aaENSP00000470335
 
Protein coding
-M0QZ68 -CDS 3' incompleteTSL:4
FKRP-208ENST00000594467.554535aaENSP00000471971
 
Protein coding
-M0R1M1 -CDS 3' incompleteTSL:4
FKRP-226ENST00000602181.548295aaENSP00000472981
 
Protein coding
-M0R342 -CDS 3' incompleteTSL:4
FKRP-220ENST00000600646.5584No protein-
 
Processed transcript
---TSL:3
FKRP-224ENST00000600977.5576No protein-
 
Processed transcript
---TSL:4
FKRP-212ENST00000596974.5568No protein-
 
Processed transcript
---TSL:4
FKRP-223ENST00000600872.5560No protein-
 
Processed transcript
---TSL:4
FKRP-214ENST00000597339.5420No protein-
 
Processed transcript
---TSL:5
FKRP-221ENST00000600681.5383No protein-
 
Processed transcript
---TSL:3
FKRP-215ENST00000597403.5322No protein-
 
Processed transcript
---TSL:3
FKRP-207ENST00000593995.5545No protein-
 
Retained intron
---TSL:3
Statistics

Exons: 4, Coding exons: 1, Transcript length: 3,332 bps, Translation length: 495 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS12691

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9H9S5

Transcript Support Level (TSL)

TSL:1

Version

ENST00000318584.9

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

GENCODE basic gene

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

Transcript-based displays