Canonical Allele Identifier: CA2260761129

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045776C= , CM000679.2:g.43045776C=	GRCh38
NC_000017.10:g.41197793C= , CM000679.1:g.41197793C=	GRCh37
NC_000017.9:g.38451319C=	NCBI36
NG_005905.2:g.172208G= , LRG_292:g.172208G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5491G=	ENSP00000417241.2:p.Val1831=
ENST00000470026.6:c.5494G=	ENSP00000419274.2:p.Val1832=
ENST00000473961.6:c.5368G=	ENSP00000420201.2:p.Val1790=
ENST00000476777.6:c.5488G=	ENSP00000417554.2:p.Val1830=
ENST00000477152.6:c.5416G=	ENSP00000419988.2:p.Val1806=
ENST00000478531.6:c.2182G=	ENSP00000420412.2:p.Val728=
ENST00000489037.2:c.5416G=	ENSP00000420781.2:p.Val1806=
ENST00000493919.6:c.2044G=	ENSP00000418819.2:p.Val682=
ENST00000494123.6:c.5494G=	ENSP00000419103.2:p.Val1832=
ENST00000497488.2:c.4606G=	ENSP00000418986.2:p.Val1536=
ENST00000618469.2:c.5494G=	ENSP00000478114.2:p.Val1832=
ENST00000634433.2:c.5371G=	ENSP00000489431.2:p.Val1791=
ENST00000644379.2:c.5560G=	ENSP00000496570.2:p.Val1854=
ENST00000644555.2:c.2044G=	ENSP00000494614.2:p.Val682=
ENST00000652672.2:c.5353G=	ENSP00000498906.2:p.Val1785=
ENST00000484087.6:c.2056G=	ENSP00000419481.2:p.Val686=
ENST00000700081.1:n.1377G=
ENST00000700082.1:n.858G=
ENST00000357654.9:c.5494G= MANE Select	ENSP00000350283.3:p.Val1832=
ENST00000471181.7:c.5557G=	ENSP00000418960.2:p.Val1853=
ENST00000644379.1:c.1881G=
ENST00000352993.7:c.2068G=	ENSP00000312236.5:p.Val690=
ENST00000357654.7:c.5494G=	ENSP00000350283.3:p.Val1832=
ENST00000461221.5:c.*5277G=	ENSP00000418548.1:n.*5277G=
ENST00000468300.5:c.*8G=	ENSP00000417148.1:n.*8G=
ENST00000471181.6:c.5557G=	ENSP00000418960.2:p.Val1853=
ENST00000491747.6:c.2182G=	ENSP00000420705.2:p.Val728=
ENST00000493795.5:c.5353G=	ENSP00000418775.1:p.Val1785=
ENST00000586385.5:c.424G=	ENSP00000465818.1:p.Val142=
ENST00000591534.5:c.967G=	ENSP00000467329.1:p.Val323=
ENST00000591849.5:c.193G=	ENSP00000465347.1:p.Val65=
NM_007294.3:c.5494G= , LRG_292t1:c.5494G=	NP_009225.1:p.Val1832=
NM_007297.3:c.5353G=	NP_009228.2:p.Val1785=
NM_007298.3:c.2182G=	NP_009229.2:p.Val728=
NM_007299.3:c.*8G=	NP_009230.2:n.*8G=
NM_007300.3:c.5557G=	NP_009231.2:p.Val1853=
NR_027676.1:n.5630G=
NM_007294.4:c.5494G= MANE Select	NP_009225.1:p.Val1832=
NM_007297.4:c.5353G=	NP_009228.2:p.Val1785=
NM_007299.4:c.*8G=	NP_009230.2:n.*8G=
NM_007300.4:c.5557G=	NP_009231.2:p.Val1853=
NR_027676.2:n.5671G=