Canonical Allele Identifier: CA2260766390

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057077C= , CM000679.2:g.43057077C=	GRCh38
NC_000017.10:g.41209094C= , CM000679.1:g.41209094C=	GRCh37
NC_000017.9:g.38462620C=	NCBI36
NG_005905.2:g.160907G= , LRG_292:g.160907G=

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5252G= MANE Select	NP_009225.1:p.Arg1751=
ENST00000357654.9:c.5252G= MANE Select	ENSP00000350283.3:p.Arg1751=
NM_007294.3:c.5252G= , LRG_292t1:c.5252G=	NP_009225.1:p.Arg1751=
NM_007297.3:c.5111G=	NP_009228.2:p.Arg1704=
NM_007297.4:c.5111G=	NP_009228.2:p.Arg1704=
NM_007298.3:c.1940G=	NP_009229.2:p.Arg647=
NM_007299.3:c.1940G=	NP_009230.2:p.Arg647=
NM_007299.4:c.1940G=	NP_009230.2:p.Arg647=
NM_007300.3:c.5315G=	NP_009231.2:p.Arg1772=
NM_007300.4:c.5315G=	NP_009231.2:p.Arg1772=
NR_027676.1:n.5388G=
NR_027676.2:n.5429G=
ENST00000352993.7:c.1826G=	ENSP00000312236.5:p.Arg609=
ENST00000357654.7:c.5252G=	ENSP00000350283.3:p.Arg1751=
ENST00000461221.5:c.*5035G=	ENSP00000418548.1:n.*5035G=
ENST00000461574.2:c.5249G=	ENSP00000417241.2:p.Arg1750=
ENST00000468300.5:c.1940G=	ENSP00000417148.1:p.Arg647=
ENST00000470026.6:c.5252G=	ENSP00000419274.2:p.Arg1751=
ENST00000471181.6:c.5315G=	ENSP00000418960.2:p.Arg1772=
ENST00000471181.7:c.5315G=	ENSP00000418960.2:p.Arg1772=
ENST00000473961.6:c.5126G=	ENSP00000420201.2:p.Arg1709=
ENST00000476777.6:c.5246G=	ENSP00000417554.2:p.Arg1749=
ENST00000477152.6:c.5174G=	ENSP00000419988.2:p.Arg1725=
ENST00000478531.6:c.1940G=	ENSP00000420412.2:p.Arg647=
ENST00000484087.6:c.1814G=	ENSP00000419481.2:p.Arg605=
ENST00000489037.2:c.5174G=	ENSP00000420781.2:p.Arg1725=
ENST00000491747.6:c.1940G=	ENSP00000420705.2:p.Arg647=
ENST00000493795.5:c.5111G=	ENSP00000418775.1:p.Arg1704=
ENST00000493919.6:c.1802G=	ENSP00000418819.2:p.Arg601=
ENST00000494123.6:c.5252G=	ENSP00000419103.2:p.Arg1751=
ENST00000497488.2:c.4364G=	ENSP00000418986.2:p.Arg1455=
ENST00000586385.5:c.182G=	ENSP00000465818.1:p.Arg61=
ENST00000591534.5:c.725G=	ENSP00000467329.1:p.Arg242=
ENST00000591849.5:c.-98-6887G=	ENSP00000465347.1:n.-98-6887G=
ENST00000618469.2:c.5252G=	ENSP00000478114.2:p.Arg1751=
ENST00000634433.2:c.5129G=	ENSP00000489431.2:p.Arg1710=
ENST00000644379.1:c.1639G=
ENST00000644379.2:c.5318G=	ENSP00000496570.2:p.Arg1773=
ENST00000644555.2:c.1802G=	ENSP00000494614.2:p.Arg601=
ENST00000652672.2:c.5111G=	ENSP00000498906.2:p.Arg1704=