Canonical Allele Identifier: CA2260763686

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051063C= , CM000679.2:g.43051063C=	GRCh38
NC_000017.10:g.41203080C= , CM000679.1:g.41203080C=	GRCh37
NC_000017.9:g.38456606C=	NCBI36
NG_005905.2:g.166921G= , LRG_292:g.166921G=

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5332G= MANE Select	NP_009225.1:p.Asp1778=
ENST00000357654.9:c.5332G= MANE Select	ENSP00000350283.3:p.Asp1778=
NM_007294.3:c.5332G= , LRG_292t1:c.5332G=	NP_009225.1:p.Asp1778=
NM_007297.3:c.5191G=	NP_009228.2:p.Asp1731=
NM_007297.4:c.5191G=	NP_009228.2:p.Asp1731=
NM_007298.3:c.2020G=	NP_009229.2:p.Asp674=
NM_007299.3:c.2020G=	NP_009230.2:p.Gly674=
NM_007299.4:c.2020G=	NP_009230.2:p.Gly674=
NM_007300.3:c.5395G=	NP_009231.2:p.Asp1799=
NM_007300.4:c.5395G=	NP_009231.2:p.Asp1799=
NR_027676.1:n.5468G=
NR_027676.2:n.5509G=
ENST00000352993.7:c.1906G=	ENSP00000312236.5:p.Asp636=
ENST00000357654.7:c.5332G=	ENSP00000350283.3:p.Asp1778=
ENST00000461221.5:c.*5115G=	ENSP00000418548.1:n.*5115G=
ENST00000461574.2:c.5329G=	ENSP00000417241.2:p.Asp1777=
ENST00000468300.5:c.2020G=	ENSP00000417148.1:p.Gly674=
ENST00000470026.6:c.5332G=	ENSP00000419274.2:p.Asp1778=
ENST00000471181.6:c.5395G=	ENSP00000418960.2:p.Asp1799=
ENST00000471181.7:c.5395G=	ENSP00000418960.2:p.Asp1799=
ENST00000473961.6:c.5206G=	ENSP00000420201.2:p.Asp1736=
ENST00000476777.6:c.5326G=	ENSP00000417554.2:p.Asp1776=
ENST00000477152.6:c.5254G=	ENSP00000419988.2:p.Asp1752=
ENST00000478531.6:c.2020G=	ENSP00000420412.2:p.Asp674=
ENST00000484087.6:c.1894G=	ENSP00000419481.2:p.Asp632=
ENST00000489037.2:c.5254G=	ENSP00000420781.2:p.Asp1752=
ENST00000491747.6:c.2020G=	ENSP00000420705.2:p.Asp674=
ENST00000493795.5:c.5191G=	ENSP00000418775.1:p.Asp1731=
ENST00000493919.6:c.1882G=	ENSP00000418819.2:p.Asp628=
ENST00000494123.6:c.5332G=	ENSP00000419103.2:p.Asp1778=
ENST00000497488.2:c.4444G=	ENSP00000418986.2:p.Asp1482=
ENST00000586385.5:c.262G=	ENSP00000465818.1:p.Asp88=
ENST00000591534.5:c.805G=	ENSP00000467329.1:p.Asp269=
ENST00000591849.5:c.-98-873G=	ENSP00000465347.1:n.-98-873G=
ENST00000618469.2:c.5332G=	ENSP00000478114.2:p.Asp1778=
ENST00000634433.2:c.5209G=	ENSP00000489431.2:p.Asp1737=
ENST00000644379.1:c.1719G=
ENST00000644379.2:c.5398G=	ENSP00000496570.2:p.Asp1800=
ENST00000644555.2:c.1882G=	ENSP00000494614.2:p.Asp628=
ENST00000652672.2:c.5191G=	ENSP00000498906.2:p.Asp1731=