Canonical Allele Identifier: CA2260762760

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049164C= , CM000679.2:g.43049164C=	GRCh38
NC_000017.10:g.41201181C= , CM000679.1:g.41201181C=	GRCh37
NC_000017.9:g.38454707C=	NCBI36
NG_005905.2:g.168820G= , LRG_292:g.168820G=

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5363G= MANE Select	NP_009225.1:p.Gly1788=
ENST00000357654.9:c.5363G= MANE Select	ENSP00000350283.3:p.Gly1788=
NM_007294.3:c.5363G= , LRG_292t1:c.5363G=	NP_009225.1:p.Gly1788=
NM_007297.3:c.5222G=	NP_009228.2:p.Gly1741=
NM_007297.4:c.5222G=	NP_009228.2:p.Gly1741=
NM_007298.3:c.2051G=	NP_009229.2:p.Gly684=
NM_007299.3:c.2021-1461G=	NP_009230.2:n.2021-1461G=
NM_007299.4:c.2021-1461G=	NP_009230.2:n.2021-1461G=
NM_007300.3:c.5426G=	NP_009231.2:p.Gly1809=
NM_007300.4:c.5426G=	NP_009231.2:p.Gly1809=
NR_027676.1:n.5499G=
NR_027676.2:n.5540G=
ENST00000352993.7:c.1937G=	ENSP00000312236.5:p.Gly646=
ENST00000357654.7:c.5363G=	ENSP00000350283.3:p.Gly1788=
ENST00000461221.5:c.*5146G=	ENSP00000418548.1:n.*5146G=
ENST00000461574.2:c.5360G=	ENSP00000417241.2:p.Gly1787=
ENST00000468300.5:c.2021-1461G=	ENSP00000417148.1:n.2021-1461G=
ENST00000470026.6:c.5363G=	ENSP00000419274.2:p.Gly1788=
ENST00000471181.6:c.5426G=	ENSP00000418960.2:p.Gly1809=
ENST00000471181.7:c.5426G=	ENSP00000418960.2:p.Gly1809=
ENST00000473961.6:c.5237G=	ENSP00000420201.2:p.Gly1746=
ENST00000476777.6:c.5357G=	ENSP00000417554.2:p.Gly1786=
ENST00000477152.6:c.5285G=	ENSP00000419988.2:p.Gly1762=
ENST00000478531.6:c.2051G=	ENSP00000420412.2:p.Gly684=
ENST00000484087.6:c.1925G=	ENSP00000419481.2:p.Gly642=
ENST00000489037.2:c.5285G=	ENSP00000420781.2:p.Gly1762=
ENST00000491747.6:c.2051G=	ENSP00000420705.2:p.Gly684=
ENST00000493795.5:c.5222G=	ENSP00000418775.1:p.Gly1741=
ENST00000493919.6:c.1913G=	ENSP00000418819.2:p.Gly638=
ENST00000494123.6:c.5363G=	ENSP00000419103.2:p.Gly1788=
ENST00000497488.2:c.4475G=	ENSP00000418986.2:p.Gly1492=
ENST00000586385.5:c.293G=	ENSP00000465818.1:p.Gly98=
ENST00000591534.5:c.836G=	ENSP00000467329.1:p.Gly279=
ENST00000591849.5:c.62G=	ENSP00000465347.1:p.Gly21=
ENST00000618469.2:c.5363G=	ENSP00000478114.2:p.Gly1788=
ENST00000634433.2:c.5240G=	ENSP00000489431.2:p.Gly1747=
ENST00000644379.1:c.1750G=
ENST00000644379.2:c.5429G=	ENSP00000496570.2:p.Gly1810=
ENST00000644555.2:c.1913G=	ENSP00000494614.2:p.Gly638=
ENST00000652672.2:c.5222G=	ENSP00000498906.2:p.Gly1741=
ENST00000700081.1:n.1246G=