Canonical Allele Identifier: CA10580521

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 234224
• ClinVar RCV Id: RCV000220839 ; RCV000802818 ; RCV003998610
• dbSNP Id: rs876660940
• MyVariant Identifiers: chr17:g.41228566C>A (hg19) ; chr17:g.43076549C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076549C>A , CM000679.2:g.43076549C>A	GRCh38
NC_000017.10:g.41228566C>A , CM000679.1:g.41228566C>A	GRCh37
NC_000017.9:g.38482092C>A	NCBI36
NG_005905.2:g.141435G>T , LRG_292:g.141435G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4420G>T	ENSP00000417241.2:p.Asp1474Tyr
ENST00000470026.6:c.4423G>T	ENSP00000419274.2:p.Asp1475Tyr
ENST00000473961.6:c.4297G>T	ENSP00000420201.2:p.Asp1433Tyr
ENST00000476777.6:c.4417G>T	ENSP00000417554.2:p.Asp1473Tyr
ENST00000477152.6:c.4345G>T	ENSP00000419988.2:p.Asp1449Tyr
ENST00000478531.6:c.1111G>T	ENSP00000420412.2:p.Asp371Tyr
ENST00000489037.2:c.4345G>T	ENSP00000420781.2:p.Asp1449Tyr
ENST00000493919.6:c.973G>T	ENSP00000418819.2:p.Asp325Tyr
ENST00000494123.6:c.4423G>T	ENSP00000419103.2:p.Asp1475Tyr
ENST00000497488.2:c.3535G>T	ENSP00000418986.2:p.Asp1179Tyr
ENST00000618469.2:c.4423G>T	ENSP00000478114.2:p.Asp1475Tyr
ENST00000634433.2:c.4300G>T	ENSP00000489431.2:p.Asp1434Tyr
ENST00000644379.2:c.4489G>T	ENSP00000496570.2:p.Asp1497Tyr
ENST00000644555.2:c.973G>T	ENSP00000494614.2:p.Asp325Tyr
ENST00000652672.2:c.4282G>T	ENSP00000498906.2:p.Asp1428Tyr
ENST00000484087.6:c.985G>T	ENSP00000419481.2:p.Asp329Tyr
ENST00000700182.1:c.1030G>T	ENSP00000514849.1:p.Asp344Tyr
ENST00000357654.9:c.4423G>T MANE Select	ENSP00000350283.3:p.Asp1475Tyr
ENST00000471181.7:c.4486G>T	ENSP00000418960.2:p.Asp1496Tyr
ENST00000644379.1:c.810G>T
ENST00000352993.7:c.997G>T	ENSP00000312236.5:p.Asp333Tyr
ENST00000357654.7:c.4423G>T	ENSP00000350283.3:p.Asp1475Tyr
ENST00000461221.5:c.*4206G>T	ENSP00000418548.1:n.*4206G>T
ENST00000461574.1:c.714G>T
ENST00000468300.5:c.1111G>T	ENSP00000417148.1:p.Asp371Tyr
ENST00000471181.6:c.4486G>T	ENSP00000418960.2:p.Asp1496Tyr
ENST00000478531.5:c.1111G>T	ENSP00000420412.1:p.Asp371Tyr
ENST00000484087.5:c.736G>T	ENSP00000419481.1:p.Asp246Tyr
ENST00000487825.5:c.739G>T	ENSP00000418212.1:p.Asp247Tyr
ENST00000491747.6:c.1111G>T	ENSP00000420705.2:p.Asp371Tyr
ENST00000493795.5:c.4282G>T	ENSP00000418775.1:p.Asp1428Tyr
ENST00000493919.5:c.973G>T	ENSP00000418819.1:p.Asp325Tyr
ENST00000586385.5:c.5-12598G>T	ENSP00000465818.1:n.5-12598G>T
ENST00000591534.5:c.-43-2028G>T	ENSP00000467329.1:n.-43-2028G>T
ENST00000591849.5:c.-98-26359G>T	ENSP00000465347.1:n.-98-26359G>T
ENST00000621897.1:n.314G>T
NM_007294.3:c.4423G>T , LRG_292t1:c.4423G>T	NP_009225.1:p.Asp1475Tyr
NM_007297.3:c.4282G>T	NP_009228.2:p.Asp1428Tyr
NM_007298.3:c.1111G>T	NP_009229.2:p.Asp371Tyr
NM_007299.3:c.1111G>T	NP_009230.2:p.Asp371Tyr
NM_007300.3:c.4486G>T	NP_009231.2:p.Asp1496Tyr
NR_027676.1:n.4559G>T
NM_007294.4:c.4423G>T MANE Select	NP_009225.1:p.Asp1475Tyr
NM_007297.4:c.4282G>T	NP_009228.2:p.Asp1428Tyr
NM_007299.4:c.1111G>T	NP_009230.2:p.Asp371Tyr
NM_007300.4:c.4486G>T	NP_009231.2:p.Asp1496Tyr
NR_027676.2:n.4600G>T