Canonical Allele Identifier: CA2260772859

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071035C= , CM000679.2:g.43071035C=	GRCh38
NC_000017.10:g.41223052C= , CM000679.1:g.41223052C=	GRCh37
NC_000017.9:g.38476578C=	NCBI36
NG_005905.2:g.146949G= , LRG_292:g.146949G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4876G=	ENSP00000417241.2:p.Ala1626=
ENST00000470026.6:c.4879G=	ENSP00000419274.2:p.Ala1627=
ENST00000473961.6:c.4753G=	ENSP00000420201.2:p.Ala1585=
ENST00000476777.6:c.4873G=	ENSP00000417554.2:p.Ala1625=
ENST00000477152.6:c.4801G=	ENSP00000419988.2:p.Ala1601=
ENST00000478531.6:c.1567G=	ENSP00000420412.2:p.Ala523=
ENST00000489037.2:c.4801G=	ENSP00000420781.2:p.Ala1601=
ENST00000493919.6:c.1429G=	ENSP00000418819.2:p.Ala477=
ENST00000494123.6:c.4879G=	ENSP00000419103.2:p.Ala1627=
ENST00000497488.2:c.3991G=	ENSP00000418986.2:p.Ala1331=
ENST00000618469.2:c.4879G=	ENSP00000478114.2:p.Ala1627=
ENST00000634433.2:c.4756G=	ENSP00000489431.2:p.Ala1586=
ENST00000644379.2:c.4945G=	ENSP00000496570.2:p.Ala1649=
ENST00000644555.2:c.1429G=	ENSP00000494614.2:p.Ala477=
ENST00000652672.2:c.4738G=	ENSP00000498906.2:p.Ala1580=
ENST00000484087.6:c.1441G=	ENSP00000419481.2:p.Ala481=
ENST00000700182.1:c.1486G=	ENSP00000514849.1:p.Ala496=
ENST00000357654.9:c.4879G= MANE Select	ENSP00000350283.3:p.Ala1627=
ENST00000471181.7:c.4942G=	ENSP00000418960.2:p.Ala1648=
ENST00000644379.1:c.1266G=
ENST00000352993.7:c.1453G=	ENSP00000312236.5:p.Ala485=
ENST00000357654.7:c.4879G=	ENSP00000350283.3:p.Ala1627=
ENST00000461221.5:c.*4662G=	ENSP00000418548.1:n.*4662G=
ENST00000468300.5:c.1567G=	ENSP00000417148.1:p.Ala523=
ENST00000471181.6:c.4942G=	ENSP00000418960.2:p.Ala1648=
ENST00000472490.1:n.32G=
ENST00000478531.5:c.1567G=	ENSP00000420412.1:p.Ala523=
ENST00000484087.5:c.1192G=	ENSP00000419481.1:p.Ala398=
ENST00000491747.6:c.1567G=	ENSP00000420705.2:p.Ala523=
ENST00000493795.5:c.4738G=	ENSP00000418775.1:p.Ala1580=
ENST00000493919.5:c.1429G=	ENSP00000418819.1:p.Ala477=
ENST00000586385.5:c.5-7084G=	ENSP00000465818.1:n.5-7084G=
ENST00000591534.5:c.352G=	ENSP00000467329.1:p.Ala118=
ENST00000591849.5:c.-98-20845G=	ENSP00000465347.1:n.-98-20845G=
NM_007294.3:c.4879G= , LRG_292t1:c.4879G=	NP_009225.1:p.Ala1627=
NM_007297.3:c.4738G=	NP_009228.2:p.Ala1580=
NM_007298.3:c.1567G=	NP_009229.2:p.Ala523=
NM_007299.3:c.1567G=	NP_009230.2:p.Ala523=
NM_007300.3:c.4942G=	NP_009231.2:p.Ala1648=
NR_027676.1:n.5015G=
NM_007294.4:c.4879G= MANE Select	NP_009225.1:p.Ala1627=
NM_007297.4:c.4738G=	NP_009228.2:p.Ala1580=
NM_007299.4:c.1567G=	NP_009230.2:p.Ala523=
NM_007300.4:c.4942G=	NP_009231.2:p.Ala1648=
NR_027676.2:n.5056G=