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 5 exons, is annotated with 5 domains and features, is associated with 11918 variant alleles and maps to 208 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: 5, Coding exons: 4, Transcript length: 455 bps, Translation length: 98 residues

Incomplete CDS

CDS 3' incomplete

Version

ENST00000489037.1

Type

Protein coding

Annotation Method

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

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
OTTHUMT00000348813 (version 1)