Canonical Allele Identifier: CA2260762029

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047695G= , CM000679.2:g.43047695G=	GRCh38
NC_000017.10:g.41199712G= , CM000679.1:g.41199712G=	GRCh37
NC_000017.9:g.38453238G=	NCBI36
NG_005905.2:g.170289C= , LRG_292:g.170289C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5412C=	ENSP00000417241.2:p.His1804=
ENST00000470026.6:c.5415C=	ENSP00000419274.2:p.His1805=
ENST00000473961.6:c.5289C=	ENSP00000420201.2:p.His1763=
ENST00000476777.6:c.5409C=	ENSP00000417554.2:p.His1803=
ENST00000477152.6:c.5337C=	ENSP00000419988.2:p.His1779=
ENST00000478531.6:c.2103C=	ENSP00000420412.2:p.His701=
ENST00000489037.2:c.5337C=	ENSP00000420781.2:p.His1779=
ENST00000493919.6:c.1965C=	ENSP00000418819.2:p.His655=
ENST00000494123.6:c.5415C=	ENSP00000419103.2:p.His1805=
ENST00000497488.2:c.4527C=	ENSP00000418986.2:p.His1509=
ENST00000618469.2:c.5415C=	ENSP00000478114.2:p.His1805=
ENST00000634433.2:c.5292C=	ENSP00000489431.2:p.His1764=
ENST00000644379.2:c.5481C=	ENSP00000496570.2:p.His1827=
ENST00000644555.2:c.1965C=	ENSP00000494614.2:p.His655=
ENST00000652672.2:c.5274C=	ENSP00000498906.2:p.His1758=
ENST00000484087.6:c.1977C=	ENSP00000419481.2:p.His659=
ENST00000700081.1:n.1298C=
ENST00000700082.1:n.779C=
ENST00000357654.9:c.5415C= MANE Select	ENSP00000350283.3:p.His1805=
ENST00000471181.7:c.5478C=	ENSP00000418960.2:p.His1826=
ENST00000644379.1:c.1802C=
ENST00000352993.7:c.1989C=	ENSP00000312236.5:p.His663=
ENST00000357654.7:c.5415C=	ENSP00000350283.3:p.His1805=
ENST00000461221.5:c.*5198C=	ENSP00000418548.1:n.*5198C=
ENST00000468300.5:c.2029C=	ENSP00000417148.1:p.Pro677=
ENST00000471181.6:c.5478C=	ENSP00000418960.2:p.His1826=
ENST00000491747.6:c.2103C=	ENSP00000420705.2:p.His701=
ENST00000493795.5:c.5274C=	ENSP00000418775.1:p.His1758=
ENST00000586385.5:c.345C=	ENSP00000465818.1:p.His115=
ENST00000591534.5:c.888C=	ENSP00000467329.1:p.His296=
ENST00000591849.5:c.114C=	ENSP00000465347.1:p.His38=
NM_007294.3:c.5415C= , LRG_292t1:c.5415C=	NP_009225.1:p.His1805=
NM_007297.3:c.5274C=	NP_009228.2:p.His1758=
NM_007298.3:c.2103C=	NP_009229.2:p.His701=
NM_007299.3:c.2029C=	NP_009230.2:p.Pro677=
NM_007300.3:c.5478C=	NP_009231.2:p.His1826=
NR_027676.1:n.5551C=
NM_007294.4:c.5415C= MANE Select	NP_009225.1:p.His1805=
NM_007297.4:c.5274C=	NP_009228.2:p.His1758=
NM_007299.4:c.2029C=	NP_009230.2:p.Pro677=
NM_007300.4:c.5478C=	NP_009231.2:p.His1826=
NR_027676.2:n.5592C=