Human (GRCh37.p13)
Description

breast cancer 1, early onset [Source:HGNC Symbol;Acc:1100]

Gene Synonyms

BRCAI, BRCC1, BROVCA1, IRIS, PNCA4, PPP1R53, PSCP, RNF53

Location
About this transcript

This transcript has 24 exons, is annotated with 39 domains and features, is associated with 58547 variant alleles and maps to 961 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000309486.4BRCA1-20171141567aaENSP00000310938.4
 
Protein coding
C4PFY7 C9IZW4 E7EP70
G4V4Z7 G4V4Z8 K4JUB1
K4JXS7 K4K7V3 K7EPC7
Q3YB49 Q3YB50 Q3YB53
Q7KYU6 Q9NQR3 Q9UE29
NM_007297.3GENCODE basic
ENST00000357654.3BRCA1-00170941863aaENSP00000350283.3
 
Protein coding
CCDS11453C4PFY7 C9IZW4 E7EP70
E7EWN5 E9PFZ0 G1UI37
G4V4Z7 G4V4Z8 G4V500
G4V502 G4V503 K4JUB1
K4JXS7 K4K7V3 K7EPC7
P38398 Q3B891 Q3LRH8
Q3YB49 Q3YB50 Q3YB53
Q4EW25 Q7KYU6 Q92897
Q9NQR3 Q9UE29
NM_007294.3GENCODE basic
ENST00000346315.3BRCA1-20264511624aaENSP00000246907.4
 
Protein coding
C4PFY7 C9IZW4 E7EMP0
E7EWN5 G1UI37 G4V4Z7
G4V4Z8 G4V500 G4V502
G4V503 K4JUB1 K4K7V3
Q3B891 Q3YB49 Q3YB50
Q3YB53 Q4EW25 Q92897
Q9NQR3
-GENCODE basic
ENST00000354071.3BRCA1-20564111598aaENSP00000326002.6
 
Protein coding
C9IZW4 E7EWN5 F8W8H7
G1UI37 G4V4Z7 G4V4Z8
G4V500 G4V502 G4V503
K4JUB1 K4K7V3 Q3B891
Q3YB49 Q3YB50 Q3YB53
Q4EW25 Q92897 Q9NQR3
-GENCODE basic
ENST00000471181.2BRCA1-00559361884aaENSP00000418960.2
 
Protein coding
CCDS11456C4PFY7 C9IZW4 E7EWN5
E9PFC7 G1UI37 G4V4Z7
G4V4Z8 G4V500 G4V502
G4V503 K4JUB1 K4JXS7
K4K7V3 K7EPC7 Q3B891
Q3YB49 Q3YB50 Q3YB53
Q4EW25 Q7KYU6 Q92897
Q9NQR3 Q9UE29
NM_007300.3GENCODE basic
ENST00000493795.1BRCA1-00657321816aaENSP00000418775.1
 
Protein coding
CCDS11459C4PFY7 C9IZW4 E7EP70
E9PFZ0 G4V4Z7 G4V4Z8
G4V500 G4V502 G4V503
K4JUB1 K4JXS7 K4K7V3
K7EPC7 Q3YB49 Q3YB50
Q3YB53 Q4EW25 Q7KYU6
Q9NQR3 Q9UE29
-GENCODE basic
ENST00000352993.3BRCA1-2043780721aaENSP00000312236.5
 
Protein coding
C4PFY7 G1UI37 K4JXS7
K7EPC7 P38398 Q7KYU6
Q92897 Q9NQR3 Q9UE29
-GENCODE basic
ENST00000351666.3BRCA1-2033444680aaENSP00000338007.3
 
Protein coding
C4PFY7 G1UI37 G3XAC3
K4JXS7 K7EPC7 Q7KYU6
Q92897 Q9NQR3 Q9UE29
-GENCODE basic
ENST00000468300.1BRCA1-0073273699aaENSP00000417148.1
 
Protein coding
CCDS11455C4PFY7 G1UI37 K4JXS7
P38398 Q92897 Q9NQR3
Q9UE29
NM_007299.3GENCODE basic
ENST00000491747.2BRCA1-0142379759aaENSP00000420705.2
 
Protein coding
CCDS11454B4DES0 C4PFY7 G1UI37
K4JXS7 K7EPC7 P38398
Q7KYU6 Q92897 Q9NQR3
Q9UE29
NM_007298.3GENCODE basic
ENST00000470026.1BRCA1-0112108649aaENSP00000419274.1
 
Protein coding
C9IZW4 E7EWN5 G1UI37
G4V500 G4V502 G4V503
Q3B891 Q4EW25 Q92897
-CDS 3' incomplete
ENST00000477152.1BRCA1-0041980622aaENSP00000419988.1
 
Protein coding
C9IZW4 E7ENB7 E9PH68
G1UI37 G4V500 G4V502
G4V503 Q4EW25 Q92897
-CDS 3' incomplete
ENST00000478531.1BRCA1-0091972623aaENSP00000420412.1
 
Protein coding
C4PFY7 E7EQW4 E7EUM2
G1UI37 K4JXS7 K4K7U9
Q92897 Q9UE29
-CDS 3' incomplete
ENST00000493919.1BRCA1-0081948572aaENSP00000418819.1
 
Protein coding
B7ZA85 C4PFY7 K4JXS7
Q9UE29
-CDS 3' incomplete
ENST00000494123.1BRCA1-0131612473aaENSP00000419103.1
 
Protein coding
C9IZW4 G1UI37 G4V500
G4V502 G4V503 Q3B891
Q4EW25 Q92897
-CDS 3' incomplete
ENST00000484087.1BRCA1-0151495498aaENSP00000419481.1
 
Protein coding
C4PFY7 H0Y8B8 K4JXS7
K4K7U9 Q9UE29
-CDS 5' and 3' incomplete
ENST00000591534.1BRCA1-0241282354aaENSP00000467329.1
 
Protein coding
C4PFY7 K4JXS7 K7EPC7
Q7KYU6 Q9NQR3 Q9UE29
-GENCODE basic
ENST00000473961.1BRCA1-018958319aaENSP00000420201.1
 
Protein coding
G4V500 G4V502 G4V503
K4K7U9 Q4EW25
-CDS 5' and 3' incomplete
ENST00000487825.1BRCA1-019800266aaENSP00000418212.1
 
Protein coding
H0Y881 -CDS 5' and 3' incomplete
ENST00000586385.1BRCA1-023781173aaENSP00000465818.1
 
Protein coding
C4PFY7 C6YB45 Q9NQR3
-GENCODE basic
ENST00000497488.1BRCA1-003779177aaENSP00000418986.1
 
Protein coding
C9IZW4 -CDS 3' incomplete
ENST00000476777.1BRCA1-017769222aaENSP00000417554.1
 
Protein coding
E7EQW4 G1UI37 K4K7U9
Q92897
-CDS 3' incomplete
ENST00000461574.1BRCA1-022726242aaENSP00000417241.1
 
Protein coding
G4V4Z7 G4V4Z8 -CDS 5' and 3' incomplete
ENST00000591849.1BRCA1-02556396aaENSP00000465347.1
 
Protein coding
K7EJW3 -GENCODE basic
ENST00000489037.1BRCA1-01645598aaENSP00000420781.1
 
Protein coding
E7ENB7 G1UI37 Q92897
-CDS 3' incomplete
ENST00000412061.3BRCA1-0261312437aaENSP00000397145.3
 
Non stop decay
C9IZW4 G4V500 G4V502
G4V503 Q4EW25
-CDS 5' incomplete
ENST00000461221.1BRCA1-010569363aaENSP00000418548.1
 
Nonsense mediated decay
G1UI37 P38398 Q92897
--
ENST00000492859.1BRCA1-002158459aaENSP00000420253.1
 
Nonsense mediated decay
E9PC22 G1UI37 Q92897
--
ENST00000461798.1BRCA1-02058263aaENSP00000417988.1
 
Nonsense mediated decay
G1UI37 P38398 Q92897
--
ENST00000467274.1BRCA1-0124497No protein-
 
Retained intron
---
ENST00000472490.1BRCA1-021561No protein-
 
Retained intron
---
Statistics

Exons: 24, Coding exons: 23, Transcript length: 5,936 bps, Translation length: 1,884 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS11456

Version

ENST00000471181.2

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.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:
OTTHUMT00000348802 (version 2)
GENCODE basic gene

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