Canonical Allele Identifier: CA2260775444

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076488C= , CM000679.2:g.43076488C=	GRCh38
NC_000017.10:g.41228505C= , CM000679.1:g.41228505C=	GRCh37
NC_000017.9:g.38482031C=	NCBI36
NG_005905.2:g.141496G= , LRG_292:g.141496G=

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4484G= MANE Select	NP_009225.1:p.Arg1495=
ENST00000357654.9:c.4484G= MANE Select	ENSP00000350283.3:p.Arg1495=
NM_007294.3:c.4484G= , LRG_292t1:c.4484G=	NP_009225.1:p.Arg1495=
NM_007297.3:c.4343G=	NP_009228.2:p.Arg1448=
NM_007297.4:c.4343G=	NP_009228.2:p.Arg1448=
NM_007298.3:c.1172G=	NP_009229.2:p.Arg391=
NM_007299.3:c.1172G=	NP_009230.2:p.Arg391=
NM_007299.4:c.1172G=	NP_009230.2:p.Arg391=
NM_007300.3:c.4547G=	NP_009231.2:p.Arg1516=
NM_007300.4:c.4547G=	NP_009231.2:p.Arg1516=
NR_027676.1:n.4620G=
NR_027676.2:n.4661G=
ENST00000352993.7:c.1058G=	ENSP00000312236.5:p.Arg353=
ENST00000357654.7:c.4484G=	ENSP00000350283.3:p.Arg1495=
ENST00000461221.5:c.*4267G=	ENSP00000418548.1:n.*4267G=
ENST00000461574.2:c.4481G=	ENSP00000417241.2:p.Arg1494=
ENST00000468300.5:c.1172G=	ENSP00000417148.1:p.Arg391=
ENST00000470026.6:c.4484G=	ENSP00000419274.2:p.Arg1495=
ENST00000471181.6:c.4547G=	ENSP00000418960.2:p.Arg1516=
ENST00000471181.7:c.4547G=	ENSP00000418960.2:p.Arg1516=
ENST00000473961.6:c.4358G=	ENSP00000420201.2:p.Arg1453=
ENST00000476777.6:c.4478G=	ENSP00000417554.2:p.Arg1493=
ENST00000477152.6:c.4406G=	ENSP00000419988.2:p.Arg1469=
ENST00000478531.5:c.1172G=	ENSP00000420412.1:p.Arg391=
ENST00000478531.6:c.1172G=	ENSP00000420412.2:p.Arg391=
ENST00000484087.5:c.797G=	ENSP00000419481.1:p.Arg266=
ENST00000484087.6:c.1046G=	ENSP00000419481.2:p.Arg349=
ENST00000487825.5:c.800G=
ENST00000489037.2:c.4406G=	ENSP00000420781.2:p.Arg1469=
ENST00000491747.6:c.1172G=	ENSP00000420705.2:p.Arg391=
ENST00000493795.5:c.4343G=	ENSP00000418775.1:p.Arg1448=
ENST00000493919.5:c.1034G=	ENSP00000418819.1:p.Arg345=
ENST00000493919.6:c.1034G=	ENSP00000418819.2:p.Arg345=
ENST00000494123.6:c.4484G=	ENSP00000419103.2:p.Arg1495=
ENST00000497488.2:c.3596G=	ENSP00000418986.2:p.Arg1199=
ENST00000586385.5:c.5-12537G=	ENSP00000465818.1:n.5-12537G=
ENST00000591534.5:c.-43-1967G=	ENSP00000467329.1:n.-43-1967G=
ENST00000591849.5:c.-98-26298G=	ENSP00000465347.1:n.-98-26298G=
ENST00000618469.2:c.4484G=	ENSP00000478114.2:p.Arg1495=
ENST00000621897.1:n.375G=
ENST00000634433.2:c.4361G=	ENSP00000489431.2:p.Arg1454=
ENST00000644379.1:c.871G=
ENST00000644379.2:c.4550G=	ENSP00000496570.2:p.Arg1517=
ENST00000644555.2:c.1034G=	ENSP00000494614.2:p.Arg345=
ENST00000652672.2:c.4343G=	ENSP00000498906.2:p.Arg1448=
ENST00000700182.1:c.1091G=	ENSP00000514849.1:p.Arg364=