Canonical Allele Identifier: CA2260772731

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070929A= , CM000679.2:g.43070929A=	GRCh38
NC_000017.10:g.41222946A= , CM000679.1:g.41222946A=	GRCh37
NC_000017.9:g.38476472A=	NCBI36
NG_005905.2:g.147055T= , LRG_292:g.147055T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4982T=	ENSP00000417241.2:p.Phe1661=
ENST00000470026.6:c.4985T=	ENSP00000419274.2:p.Phe1662=
ENST00000473961.6:c.4859T=	ENSP00000420201.2:p.Phe1620=
ENST00000476777.6:c.4979T=	ENSP00000417554.2:p.Phe1660=
ENST00000477152.6:c.4907T=	ENSP00000419988.2:p.Phe1636=
ENST00000478531.6:c.1673T=	ENSP00000420412.2:p.Phe558=
ENST00000489037.2:c.4907T=	ENSP00000420781.2:p.Phe1636=
ENST00000493919.6:c.1535T=	ENSP00000418819.2:p.Phe512=
ENST00000494123.6:c.4985T=	ENSP00000419103.2:p.Phe1662=
ENST00000497488.2:c.4097T=	ENSP00000418986.2:p.Phe1366=
ENST00000618469.2:c.4985T=	ENSP00000478114.2:p.Phe1662=
ENST00000634433.2:c.4862T=	ENSP00000489431.2:p.Phe1621=
ENST00000644379.2:c.5051T=	ENSP00000496570.2:p.Phe1684=
ENST00000644555.2:c.1535T=	ENSP00000494614.2:p.Phe512=
ENST00000652672.2:c.4844T=	ENSP00000498906.2:p.Phe1615=
ENST00000484087.6:c.1547T=	ENSP00000419481.2:p.Phe516=
ENST00000700182.1:c.1592T=	ENSP00000514849.1:p.Phe531=
ENST00000357654.9:c.4985T= MANE Select	ENSP00000350283.3:p.Phe1662=
ENST00000471181.7:c.5048T=	ENSP00000418960.2:p.Phe1683=
ENST00000644379.1:c.1372T=
ENST00000352993.7:c.1559T=	ENSP00000312236.5:p.Phe520=
ENST00000357654.7:c.4985T=	ENSP00000350283.3:p.Phe1662=
ENST00000461221.5:c.*4768T=	ENSP00000418548.1:n.*4768T=
ENST00000468300.5:c.1673T=	ENSP00000417148.1:p.Phe558=
ENST00000471181.6:c.5048T=	ENSP00000418960.2:p.Phe1683=
ENST00000472490.1:n.138T=
ENST00000478531.5:c.1673T=	ENSP00000420412.1:p.Phe558=
ENST00000484087.5:c.1298T=	ENSP00000419481.1:p.Phe433=
ENST00000491747.6:c.1673T=	ENSP00000420705.2:p.Phe558=
ENST00000493795.5:c.4844T=	ENSP00000418775.1:p.Phe1615=
ENST00000493919.5:c.1535T=	ENSP00000418819.1:p.Phe512=
ENST00000586385.5:c.5-6978T=	ENSP00000465818.1:n.5-6978T=
ENST00000591534.5:c.458T=	ENSP00000467329.1:p.Phe153=
ENST00000591849.5:c.-98-20739T=	ENSP00000465347.1:n.-98-20739T=
NM_007294.3:c.4985T= , LRG_292t1:c.4985T=	NP_009225.1:p.Phe1662=
NM_007297.3:c.4844T=	NP_009228.2:p.Phe1615=
NM_007298.3:c.1673T=	NP_009229.2:p.Phe558=
NM_007299.3:c.1673T=	NP_009230.2:p.Phe558=
NM_007300.3:c.5048T=	NP_009231.2:p.Phe1683=
NR_027676.1:n.5121T=
NM_007294.4:c.4985T= MANE Select	NP_009225.1:p.Phe1662=
NM_007297.4:c.4844T=	NP_009228.2:p.Phe1615=
NM_007299.4:c.1673T=	NP_009230.2:p.Phe558=
NM_007300.4:c.5048T=	NP_009231.2:p.Phe1683=
NR_027676.2:n.5162T=