Canonical Allele Identifier: CA10592578

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1740863
• ClinVar RCV Id: RCV002328514
• dbSNP Id: rs949577051
• MyVariant Identifiers: chr17:g.41228512C>G (hg19) ; chr17:g.43076495C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076495C>G , CM000679.2:g.43076495C>G	GRCh38
NC_000017.10:g.41228512C>G , CM000679.1:g.41228512C>G	GRCh37
NC_000017.9:g.38482038C>G	NCBI36
NG_005905.2:g.141489G>C , LRG_292:g.141489G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4474G>C	ENSP00000417241.2:p.Val1492Leu
ENST00000470026.6:c.4477G>C	ENSP00000419274.2:p.Val1493Leu
ENST00000473961.6:c.4351G>C	ENSP00000420201.2:p.Val1451Leu
ENST00000476777.6:c.4471G>C	ENSP00000417554.2:p.Val1491Leu
ENST00000477152.6:c.4399G>C	ENSP00000419988.2:p.Val1467Leu
ENST00000478531.6:c.1165G>C	ENSP00000420412.2:p.Val389Leu
ENST00000489037.2:c.4399G>C	ENSP00000420781.2:p.Val1467Leu
ENST00000493919.6:c.1027G>C	ENSP00000418819.2:p.Val343Leu
ENST00000494123.6:c.4477G>C	ENSP00000419103.2:p.Val1493Leu
ENST00000497488.2:c.3589G>C	ENSP00000418986.2:p.Val1197Leu
ENST00000618469.2:c.4477G>C	ENSP00000478114.2:p.Val1493Leu
ENST00000634433.2:c.4354G>C	ENSP00000489431.2:p.Val1452Leu
ENST00000644379.2:c.4543G>C	ENSP00000496570.2:p.Val1515Leu
ENST00000644555.2:c.1027G>C	ENSP00000494614.2:p.Val343Leu
ENST00000652672.2:c.4336G>C	ENSP00000498906.2:p.Val1446Leu
ENST00000484087.6:c.1039G>C	ENSP00000419481.2:p.Val347Leu
ENST00000700182.1:c.1084G>C	ENSP00000514849.1:p.Val362Leu
ENST00000357654.9:c.4477G>C MANE Select	ENSP00000350283.3:p.Val1493Leu
ENST00000471181.7:c.4540G>C	ENSP00000418960.2:p.Val1514Leu
ENST00000644379.1:c.864G>C
ENST00000352993.7:c.1051G>C	ENSP00000312236.5:p.Val351Leu
ENST00000357654.7:c.4477G>C	ENSP00000350283.3:p.Val1493Leu
ENST00000461221.5:c.*4260G>C	ENSP00000418548.1:n.*4260G>C
ENST00000468300.5:c.1165G>C	ENSP00000417148.1:p.Val389Leu
ENST00000471181.6:c.4540G>C	ENSP00000418960.2:p.Val1514Leu
ENST00000478531.5:c.1165G>C	ENSP00000420412.1:p.Val389Leu
ENST00000484087.5:c.790G>C	ENSP00000419481.1:p.Val264Leu
ENST00000487825.5:c.793G>C	ENSP00000418212.1:p.Val265Leu
ENST00000491747.6:c.1165G>C	ENSP00000420705.2:p.Val389Leu
ENST00000493795.5:c.4336G>C	ENSP00000418775.1:p.Val1446Leu
ENST00000493919.5:c.1027G>C	ENSP00000418819.1:p.Val343Leu
ENST00000586385.5:c.5-12544G>C	ENSP00000465818.1:n.5-12544G>C
ENST00000591534.5:c.-43-1974G>C	ENSP00000467329.1:n.-43-1974G>C
ENST00000591849.5:c.-98-26305G>C	ENSP00000465347.1:n.-98-26305G>C
ENST00000621897.1:n.368G>C
NM_007294.3:c.4477G>C , LRG_292t1:c.4477G>C	NP_009225.1:p.Val1493Leu
NM_007297.3:c.4336G>C	NP_009228.2:p.Val1446Leu
NM_007298.3:c.1165G>C	NP_009229.2:p.Val389Leu
NM_007299.3:c.1165G>C	NP_009230.2:p.Val389Leu
NM_007300.3:c.4540G>C	NP_009231.2:p.Val1514Leu
NR_027676.1:n.4613G>C
NM_007294.4:c.4477G>C MANE Select	NP_009225.1:p.Val1493Leu
NM_007297.4:c.4336G>C	NP_009228.2:p.Val1446Leu
NM_007299.4:c.1165G>C	NP_009230.2:p.Val389Leu
NM_007300.4:c.4540G>C	NP_009231.2:p.Val1514Leu
NR_027676.2:n.4654G>C