Description

BRCA1, DNA repair associated [Source:HGNC Symbol;Acc:HGNC:1100]

Synonyms

PPP1R53, FANCS, RNF53, BRCC1

Location

Chromosome 17: 43,044,295-43,170,245 reverse strand.

GRCh38:CM000679.2

About this gene

This gene has 30 transcripts (splice variants), 84 orthologues, is a member of 1 Ensembl protein family and is associated with 53 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
BRCA1-203ENST00000357654.770941863aaENSP00000350283
 
Protein coding
CCDS11453P38398 NM_007294
NP_009225
TSL:1GENCODE basicAPPRIS P1
BRCA1-210ENST00000471181.659361884aaENSP00000418960
 
Protein coding
CCDS11456P38398 NM_007300
NP_009231
TSL:1GENCODE basic
BRCA1-221ENST00000493795.557321816aaENSP00000418775
 
Protein coding
CCDS11459P38398 NM_007297
NP_009228
TSL:5GENCODE basic
BRCA1-208ENST00000468300.53273699aaENSP00000417148
 
Protein coding
CCDS11455P38398 NM_007299
NP_009230
TSL:1GENCODE basic
BRCA1-219ENST00000491747.62379759aaENSP00000420705
 
Protein coding
CCDS11454A0A024R1V0 P38398 NM_007298
NP_009229
TSL:5GENCODE basic
BRCA1-202ENST00000354071.744971399aaENSP00000326002
 
Protein coding
-Q5YLB2 -TSL:1GENCODE basic
BRCA1-201ENST00000352993.73668721aaENSP00000312236
 
Protein coding
-A0A024R1Z8 P38398 -TSL:5GENCODE basic
BRCA1-230ENST00000634433.12534798aaENSP00000489431
 
Protein coding
-A0A0U1RRA9 -CDS 3' incompleteTSL:5
BRCA1-209ENST00000470026.52108649aaENSP00000419274
 
Protein coding
-E7EWN5 -CDS 3' incompleteTSL:1
BRCA1-214ENST00000477152.51980622aaENSP00000419988
 
Protein coding
-E9PH68 -CDS 3' incompleteTSL:1
BRCA1-215ENST00000478531.51972623aaENSP00000420412
 
Protein coding
-E7EUM2 -CDS 3' incompleteTSL:1
BRCA1-222ENST00000493919.51948572aaENSP00000418819
 
Protein coding
-B7ZA85 -CDS 3' incompleteTSL:2
BRCA1-223ENST00000494123.51612473aaENSP00000419103
 
Protein coding
-Q3B891 -CDS 3' incompleteTSL:1
BRCA1-216ENST00000484087.51495498aaENSP00000419481
 
Protein coding
-H0Y8B8 -CDS 5' and 3' incompleteTSL:5
BRCA1-226ENST00000591534.51282354aaENSP00000467329
 
Protein coding
-K7EPC7 -TSL:1GENCODE basic
BRCA1-212ENST00000473961.5958319aaENSP00000420201
 
Protein coding
-H0Y8D8 -CDS 5' and 3' incompleteTSL:2
BRCA1-217ENST00000487825.5800266aaENSP00000418212
 
Protein coding
-H0Y881 -CDS 5' and 3' incompleteTSL:5
BRCA1-225ENST00000586385.5781173aaENSP00000465818
 
Protein coding
-C6YB45 -TSL:1GENCODE basic
BRCA1-224ENST00000497488.1779177aaENSP00000418986
 
Protein coding
-C9IZW4 -CDS 3' incompleteTSL:1
BRCA1-213ENST00000476777.5769222aaENSP00000417554
 
Protein coding
-E7EQW4 -CDS 3' incompleteTSL:5
BRCA1-206ENST00000461574.1726242aaENSP00000417241
 
Protein coding
-H0Y850 -CDS 5' and 3' incompleteTSL:2
BRCA1-228ENST00000618469.171823aaENSP00000478114
 
Protein coding
-G1UI37 -CDS 3' incompleteTSL:1
BRCA1-227ENST00000591849.556396aaENSP00000465347
 
Protein coding
-K7EJW3 -TSL:1GENCODE basic
BRCA1-218ENST00000489037.145598aaENSP00000420781
 
Protein coding
-E7ENB7 -CDS 3' incompleteTSL:4
BRCA1-204ENST00000412061.31312437aaENSP00000397145
 
Non stop decay
-A0A0A0MSN1 -CDS 5' incompleteTSL:1
BRCA1-205ENST00000461221.5569363aaENSP00000418548
 
Nonsense mediated decay
-P38398 NR_027676
TSL:1
BRCA1-220ENST00000492859.5158459aaENSP00000420253
 
Nonsense mediated decay
-E9PC22 -TSL:1
BRCA1-207ENST00000461798.558263aaENSP00000417988
 
Nonsense mediated decay
-P38398 -TSL:3
BRCA1-229ENST00000621897.1375No protein-
 
Processed transcript
---TSL:5
BRCA1-211ENST00000472490.1561No protein-
 
Retained intron
---TSL:3

Gene-based displays