Canonical Allele Identifier: CA2260769525

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063903G= , CM000679.2:g.43063903G=	GRCh38
NC_000017.10:g.41215920G= , CM000679.1:g.41215920G=	GRCh37
NC_000017.9:g.38469446G=	NCBI36
NG_005905.2:g.154081C= , LRG_292:g.154081C=

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5123C= MANE Select	NP_009225.1:p.Ala1708=
ENST00000357654.9:c.5123C= MANE Select	ENSP00000350283.3:p.Ala1708=
NM_007294.3:c.5123C= , LRG_292t1:c.5123C=	NP_009225.1:p.Ala1708=
NM_007297.3:c.4982C=	NP_009228.2:p.Ala1661=
NM_007297.4:c.4982C=	NP_009228.2:p.Ala1661=
NM_007298.3:c.1811C=	NP_009229.2:p.Ala604=
NM_007299.3:c.1811C=	NP_009230.2:p.Ala604=
NM_007299.4:c.1811C=	NP_009230.2:p.Ala604=
NM_007300.3:c.5186C=	NP_009231.2:p.Ala1729=
NM_007300.4:c.5186C=	NP_009231.2:p.Ala1729=
NR_027676.1:n.5259C=
NR_027676.2:n.5300C=
ENST00000352993.7:c.1697C=	ENSP00000312236.5:p.Ala566=
ENST00000357654.7:c.5123C=	ENSP00000350283.3:p.Ala1708=
ENST00000461221.5:c.*4906C=	ENSP00000418548.1:n.*4906C=
ENST00000461574.2:c.5120C=	ENSP00000417241.2:p.Ala1707=
ENST00000468300.5:c.1811C=	ENSP00000417148.1:p.Ala604=
ENST00000470026.6:c.5123C=	ENSP00000419274.2:p.Ala1708=
ENST00000471181.6:c.5186C=	ENSP00000418960.2:p.Ala1729=
ENST00000471181.7:c.5186C=	ENSP00000418960.2:p.Ala1729=
ENST00000473961.6:c.4997C=	ENSP00000420201.2:p.Ala1666=
ENST00000476777.6:c.5117C=	ENSP00000417554.2:p.Ala1706=
ENST00000477152.6:c.5045C=	ENSP00000419988.2:p.Ala1682=
ENST00000478531.5:c.1811C=	ENSP00000420412.1:p.Ala604=
ENST00000478531.6:c.1811C=	ENSP00000420412.2:p.Ala604=
ENST00000484087.5:c.1436C=	ENSP00000419481.1:p.Ala479=
ENST00000484087.6:c.1685C=	ENSP00000419481.2:p.Ala562=
ENST00000489037.2:c.5045C=	ENSP00000420781.2:p.Ala1682=
ENST00000491747.6:c.1811C=	ENSP00000420705.2:p.Ala604=
ENST00000493795.5:c.4982C=	ENSP00000418775.1:p.Ala1661=
ENST00000493919.5:c.1673C=	ENSP00000418819.1:p.Ala558=
ENST00000493919.6:c.1673C=	ENSP00000418819.2:p.Ala558=
ENST00000494123.6:c.5123C=	ENSP00000419103.2:p.Ala1708=
ENST00000497488.2:c.4235C=	ENSP00000418986.2:p.Ala1412=
ENST00000586385.5:c.53C=	ENSP00000465818.1:p.Ala18=
ENST00000591534.5:c.596C=	ENSP00000467329.1:p.Ala199=
ENST00000591849.5:c.-98-13713C=	ENSP00000465347.1:n.-98-13713C=
ENST00000618469.2:c.5123C=	ENSP00000478114.2:p.Ala1708=
ENST00000634433.2:c.5000C=	ENSP00000489431.2:p.Ala1667=
ENST00000644379.1:c.1510C=
ENST00000644379.2:c.5189C=	ENSP00000496570.2:p.Ala1730=
ENST00000644555.2:c.1673C=	ENSP00000494614.2:p.Ala558=
ENST00000652672.2:c.4982C=	ENSP00000498906.2:p.Ala1661=