Canonical Allele Identifier: CA2260762007

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047677C= , CM000679.2:g.43047677C=	GRCh38
NC_000017.10:g.41199694C= , CM000679.1:g.41199694C=	GRCh37
NC_000017.9:g.38453220C=	NCBI36
NG_005905.2:g.170307G= , LRG_292:g.170307G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5430G=	ENSP00000417241.2:p.Gln1810=
ENST00000470026.6:c.5433G=	ENSP00000419274.2:p.Gln1811=
ENST00000473961.6:c.5307G=	ENSP00000420201.2:p.Gln1769=
ENST00000476777.6:c.5427G=	ENSP00000417554.2:p.Gln1809=
ENST00000477152.6:c.5355G=	ENSP00000419988.2:p.Gln1785=
ENST00000478531.6:c.2121G=	ENSP00000420412.2:p.Gln707=
ENST00000489037.2:c.5355G=	ENSP00000420781.2:p.Gln1785=
ENST00000493919.6:c.1983G=	ENSP00000418819.2:p.Gln661=
ENST00000494123.6:c.5433G=	ENSP00000419103.2:p.Gln1811=
ENST00000497488.2:c.4545G=	ENSP00000418986.2:p.Gln1515=
ENST00000618469.2:c.5433G=	ENSP00000478114.2:p.Gln1811=
ENST00000634433.2:c.5310G=	ENSP00000489431.2:p.Gln1770=
ENST00000644379.2:c.5499G=	ENSP00000496570.2:p.Gln1833=
ENST00000644555.2:c.1983G=	ENSP00000494614.2:p.Gln661=
ENST00000652672.2:c.5292G=	ENSP00000498906.2:p.Gln1764=
ENST00000484087.6:c.1995G=	ENSP00000419481.2:p.Gln665=
ENST00000700081.1:n.1316G=
ENST00000700082.1:n.797G=
ENST00000357654.9:c.5433G= MANE Select	ENSP00000350283.3:p.Gln1811=
ENST00000471181.7:c.5496G=	ENSP00000418960.2:p.Gln1832=
ENST00000644379.1:c.1820G=
ENST00000352993.7:c.2007G=	ENSP00000312236.5:p.Gln669=
ENST00000357654.7:c.5433G=	ENSP00000350283.3:p.Gln1811=
ENST00000461221.5:c.*5216G=	ENSP00000418548.1:n.*5216G=
ENST00000468300.5:c.2047G=	ENSP00000417148.1:p.Ala683=
ENST00000471181.6:c.5496G=	ENSP00000418960.2:p.Gln1832=
ENST00000491747.6:c.2121G=	ENSP00000420705.2:p.Gln707=
ENST00000493795.5:c.5292G=	ENSP00000418775.1:p.Gln1764=
ENST00000586385.5:c.363G=	ENSP00000465818.1:p.Gln121=
ENST00000591534.5:c.906G=	ENSP00000467329.1:p.Gln302=
ENST00000591849.5:c.132G=	ENSP00000465347.1:p.Gln44=
NM_007294.3:c.5433G= , LRG_292t1:c.5433G=	NP_009225.1:p.Gln1811=
NM_007297.3:c.5292G=	NP_009228.2:p.Gln1764=
NM_007298.3:c.2121G=	NP_009229.2:p.Gln707=
NM_007299.3:c.2047G=	NP_009230.2:p.Ala683=
NM_007300.3:c.5496G=	NP_009231.2:p.Gln1832=
NR_027676.1:n.5569G=
NM_007294.4:c.5433G= MANE Select	NP_009225.1:p.Gln1811=
NM_007297.4:c.5292G=	NP_009228.2:p.Gln1764=
NM_007299.4:c.2047G=	NP_009230.2:p.Ala683=
NM_007300.4:c.5496G=	NP_009231.2:p.Gln1832=
NR_027676.2:n.5610G=