Canonical Allele Identifier: CA2260762003

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047673C= , CM000679.2:g.43047673C=	GRCh38
NC_000017.10:g.41199690C= , CM000679.1:g.41199690C=	GRCh37
NC_000017.9:g.38453216C=	NCBI36
NG_005905.2:g.170311G= , LRG_292:g.170311G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5434G=	ENSP00000417241.2:p.Asp1812=
ENST00000470026.6:c.5437G=	ENSP00000419274.2:p.Asp1813=
ENST00000473961.6:c.5311G=	ENSP00000420201.2:p.Asp1771=
ENST00000476777.6:c.5431G=	ENSP00000417554.2:p.Asp1811=
ENST00000477152.6:c.5359G=	ENSP00000419988.2:p.Asp1787=
ENST00000478531.6:c.2125G=	ENSP00000420412.2:p.Asp709=
ENST00000489037.2:c.5359G=	ENSP00000420781.2:p.Asp1787=
ENST00000493919.6:c.1987G=	ENSP00000418819.2:p.Asp663=
ENST00000494123.6:c.5437G=	ENSP00000419103.2:p.Asp1813=
ENST00000497488.2:c.4549G=	ENSP00000418986.2:p.Asp1517=
ENST00000618469.2:c.5437G=	ENSP00000478114.2:p.Asp1813=
ENST00000634433.2:c.5314G=	ENSP00000489431.2:p.Asp1772=
ENST00000644379.2:c.5503G=	ENSP00000496570.2:p.Asp1835=
ENST00000644555.2:c.1987G=	ENSP00000494614.2:p.Asp663=
ENST00000652672.2:c.5296G=	ENSP00000498906.2:p.Asp1766=
ENST00000484087.6:c.1999G=	ENSP00000419481.2:p.Asp667=
ENST00000700081.1:n.1320G=
ENST00000700082.1:n.801G=
ENST00000357654.9:c.5437G= MANE Select	ENSP00000350283.3:p.Asp1813=
ENST00000471181.7:c.5500G=	ENSP00000418960.2:p.Asp1834=
ENST00000644379.1:c.1824G=
ENST00000352993.7:c.2011G=	ENSP00000312236.5:p.Asp671=
ENST00000357654.7:c.5437G=	ENSP00000350283.3:p.Asp1813=
ENST00000461221.5:c.*5220G=	ENSP00000418548.1:n.*5220G=
ENST00000468300.5:c.2051G=	ENSP00000417148.1:p.Arg684=
ENST00000471181.6:c.5500G=	ENSP00000418960.2:p.Asp1834=
ENST00000491747.6:c.2125G=	ENSP00000420705.2:p.Asp709=
ENST00000493795.5:c.5296G=	ENSP00000418775.1:p.Asp1766=
ENST00000586385.5:c.367G=	ENSP00000465818.1:p.Asp123=
ENST00000591534.5:c.910G=	ENSP00000467329.1:p.Asp304=
ENST00000591849.5:c.136G=	ENSP00000465347.1:p.Asp46=
NM_007294.3:c.5437G= , LRG_292t1:c.5437G=	NP_009225.1:p.Asp1813=
NM_007297.3:c.5296G=	NP_009228.2:p.Asp1766=
NM_007298.3:c.2125G=	NP_009229.2:p.Asp709=
NM_007299.3:c.2051G=	NP_009230.2:p.Arg684=
NM_007300.3:c.5500G=	NP_009231.2:p.Asp1834=
NR_027676.1:n.5573G=
NM_007294.4:c.5437G= MANE Select	NP_009225.1:p.Asp1813=
NM_007297.4:c.5296G=	NP_009228.2:p.Asp1766=
NM_007299.4:c.2051G=	NP_009230.2:p.Arg684=
NM_007300.4:c.5500G=	NP_009231.2:p.Asp1834=
NR_027676.2:n.5614G=