Canonical Allele Identifier: CA002475

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55022
• ClinVar RCV Id: RCV000048350 ; RCV000112195 ; RCV000254889 ; RCV000162868 ; RCV001354944 ; RCV003162411
• dbSNP Id: rs80356866
• COSMIC: COSM1302865
• MyVariant Identifiers: chr17:g.41243707G>A (hg19) ; chr17:g.43091690G>A (hg38)
• PubMed: PMID:8807330 ; PMID:9150151 ; PMID:15026808 ; PMID:22144684 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091690G>A , CM000679.2:g.43091690G>A	GRCh38
NC_000017.10:g.41243707G>A , CM000679.1:g.41243707G>A	GRCh37
NC_000017.9:g.38497233G>A	NCBI36
NG_005905.2:g.126294C>T , LRG_292:g.126294C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3905C>T
ENST00000461574.2:c.3841C>T	ENSP00000417241.2:p.Gln1281Ter
ENST00000470026.6:c.3841C>T	ENSP00000419274.2:p.Gln1281Ter
ENST00000473961.6:c.3715C>T	ENSP00000420201.2:p.Gln1239Ter
ENST00000476777.6:c.3838C>T	ENSP00000417554.2:p.Gln1280Ter
ENST00000477152.6:c.3763C>T	ENSP00000419988.2:p.Gln1255Ter
ENST00000478531.6:c.785-658C>T	ENSP00000420412.2:n.785-658C>T
ENST00000489037.2:c.3763C>T	ENSP00000420781.2:p.Gln1255Ter
ENST00000493919.6:c.647-658C>T	ENSP00000418819.2:n.647-658C>T
ENST00000494123.6:c.3841C>T	ENSP00000419103.2:p.Gln1281Ter
ENST00000497488.2:c.2953C>T	ENSP00000418986.2:p.Gln985Ter
ENST00000618469.2:c.3841C>T	ENSP00000478114.2:p.Gln1281Ter
ENST00000634433.2:c.3718C>T	ENSP00000489431.2:p.Gln1240Ter
ENST00000644379.2:c.3841C>T	ENSP00000496570.2:p.Gln1281Ter
ENST00000644555.2:c.647-658C>T	ENSP00000494614.2:n.647-658C>T
ENST00000652672.2:c.3700C>T	ENSP00000498906.2:p.Gln1234Ter
ENST00000484087.6:c.665-658C>T	ENSP00000419481.2:n.665-658C>T
ENST00000700182.1:c.707-658C>T	ENSP00000514849.1:n.707-658C>T
ENST00000357654.9:c.3841C>T MANE Select	ENSP00000350283.3:p.Gln1281Ter
ENST00000471181.7:c.3841C>T	ENSP00000418960.2:p.Gln1281Ter
ENST00000644379.1:c.162C>T
ENST00000352993.7:c.671-658C>T	ENSP00000312236.5:n.671-658C>T
ENST00000354071.7:c.3841C>T	ENSP00000326002.7:p.Gln1281Ter
ENST00000357654.7:c.3841C>T	ENSP00000350283.3:p.Gln1281Ter
ENST00000461221.5:c.*3624C>T	ENSP00000418548.1:n.*3624C>T
ENST00000461574.1:c.135C>T
ENST00000468300.5:c.788-658C>T	ENSP00000417148.1:n.788-658C>T
ENST00000471181.6:c.3841C>T	ENSP00000418960.2:p.Gln1281Ter
ENST00000478531.5:c.785-658C>T	ENSP00000420412.1:n.785-658C>T
ENST00000484087.5:c.410-658C>T	ENSP00000419481.1:n.410-658C>T
ENST00000487825.5:c.413-658C>T	ENSP00000418212.1:n.413-658C>T
ENST00000491747.6:c.788-658C>T	ENSP00000420705.2:n.788-658C>T
ENST00000493795.5:c.3700C>T	ENSP00000418775.1:p.Gln1234Ter
ENST00000493919.5:c.647-658C>T	ENSP00000418819.1:n.647-658C>T
ENST00000586385.5:c.5-27739C>T	ENSP00000465818.1:n.5-27739C>T
ENST00000591534.5:c.-43-17169C>T	ENSP00000467329.1:n.-43-17169C>T
ENST00000591849.5:c.-99+33581C>T	ENSP00000465347.1:n.-99+33581C>T
NM_007294.3:c.3841C>T , LRG_292t1:c.3841C>T	NP_009225.1:p.Gln1281Ter
NM_007297.3:c.3700C>T	NP_009228.2:p.Gln1234Ter
NM_007298.3:c.788-658C>T	NP_009229.2:n.788-658C>T
NM_007299.3:c.788-658C>T	NP_009230.2:n.788-658C>T
NM_007300.3:c.3841C>T	NP_009231.2:p.Gln1281Ter
NR_027676.1:n.3977C>T
NM_007294.4:c.3841C>T MANE Select	NP_009225.1:p.Gln1281Ter
NM_007297.4:c.3700C>T	NP_009228.2:p.Gln1234Ter
NM_007299.4:c.788-658C>T	NP_009230.2:n.788-658C>T
NM_007300.4:c.3841C>T	NP_009231.2:p.Gln1281Ter
NR_027676.2:n.4018C>T