Canonical Allele Identifier: CA2260762731

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049140G= , CM000679.2:g.43049140G=	GRCh38
NC_000017.10:g.41201157G= , CM000679.1:g.41201157G=	GRCh37
NC_000017.9:g.38454683G=	NCBI36
NG_005905.2:g.168844C= , LRG_292:g.168844C=

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5387C= MANE Select	NP_009225.1:p.Ser1796=
ENST00000357654.9:c.5387C= MANE Select	ENSP00000350283.3:p.Ser1796=
NM_007294.3:c.5387C= , LRG_292t1:c.5387C=	NP_009225.1:p.Ser1796=
NM_007297.3:c.5246C=	NP_009228.2:p.Ser1749=
NM_007297.4:c.5246C=	NP_009228.2:p.Ser1749=
NM_007298.3:c.2075C=	NP_009229.2:p.Ser692=
NM_007299.3:c.2021-1437C=	NP_009230.2:n.2021-1437C=
NM_007299.4:c.2021-1437C=	NP_009230.2:n.2021-1437C=
NM_007300.3:c.5450C=	NP_009231.2:p.Ser1817=
NM_007300.4:c.5450C=	NP_009231.2:p.Ser1817=
NR_027676.1:n.5523C=
NR_027676.2:n.5564C=
ENST00000352993.7:c.1961C=	ENSP00000312236.5:p.Ser654=
ENST00000357654.7:c.5387C=	ENSP00000350283.3:p.Ser1796=
ENST00000461221.5:c.*5170C=	ENSP00000418548.1:n.*5170C=
ENST00000461574.2:c.5384C=	ENSP00000417241.2:p.Ser1795=
ENST00000468300.5:c.2021-1437C=	ENSP00000417148.1:n.2021-1437C=
ENST00000470026.6:c.5387C=	ENSP00000419274.2:p.Ser1796=
ENST00000471181.6:c.5450C=	ENSP00000418960.2:p.Ser1817=
ENST00000471181.7:c.5450C=	ENSP00000418960.2:p.Ser1817=
ENST00000473961.6:c.5261C=	ENSP00000420201.2:p.Ser1754=
ENST00000476777.6:c.5381C=	ENSP00000417554.2:p.Ser1794=
ENST00000477152.6:c.5309C=	ENSP00000419988.2:p.Ser1770=
ENST00000478531.6:c.2075C=	ENSP00000420412.2:p.Ser692=
ENST00000484087.6:c.1949C=	ENSP00000419481.2:p.Ser650=
ENST00000489037.2:c.5309C=	ENSP00000420781.2:p.Ser1770=
ENST00000491747.6:c.2075C=	ENSP00000420705.2:p.Ser692=
ENST00000493795.5:c.5246C=	ENSP00000418775.1:p.Ser1749=
ENST00000493919.6:c.1937C=	ENSP00000418819.2:p.Ser646=
ENST00000494123.6:c.5387C=	ENSP00000419103.2:p.Ser1796=
ENST00000497488.2:c.4499C=	ENSP00000418986.2:p.Ser1500=
ENST00000586385.5:c.317C=	ENSP00000465818.1:p.Ser106=
ENST00000591534.5:c.860C=	ENSP00000467329.1:p.Ser287=
ENST00000591849.5:c.86C=	ENSP00000465347.1:p.Ser29=
ENST00000618469.2:c.5387C=	ENSP00000478114.2:p.Ser1796=
ENST00000634433.2:c.5264C=	ENSP00000489431.2:p.Ser1755=
ENST00000644379.1:c.1774C=
ENST00000644379.2:c.5453C=	ENSP00000496570.2:p.Ser1818=
ENST00000644555.2:c.1937C=	ENSP00000494614.2:p.Ser646=
ENST00000652672.2:c.5246C=	ENSP00000498906.2:p.Ser1749=
ENST00000700081.1:n.1270C=