Canonical Allele Identifier: CA2260762783

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049182C= , CM000679.2:g.43049182C=	GRCh38
NC_000017.10:g.41201199C= , CM000679.1:g.41201199C=	GRCh37
NC_000017.9:g.38454725C=	NCBI36
NG_005905.2:g.168802G= , LRG_292:g.168802G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5342G=	ENSP00000417241.2:p.Trp1781=
ENST00000470026.6:c.5345G=	ENSP00000419274.2:p.Trp1782=
ENST00000473961.6:c.5219G=	ENSP00000420201.2:p.Trp1740=
ENST00000476777.6:c.5339G=	ENSP00000417554.2:p.Trp1780=
ENST00000477152.6:c.5267G=	ENSP00000419988.2:p.Trp1756=
ENST00000478531.6:c.2033G=	ENSP00000420412.2:p.Trp678=
ENST00000489037.2:c.5267G=	ENSP00000420781.2:p.Trp1756=
ENST00000493919.6:c.1895G=	ENSP00000418819.2:p.Trp632=
ENST00000494123.6:c.5345G=	ENSP00000419103.2:p.Trp1782=
ENST00000497488.2:c.4457G=	ENSP00000418986.2:p.Trp1486=
ENST00000618469.2:c.5345G=	ENSP00000478114.2:p.Trp1782=
ENST00000634433.2:c.5222G=	ENSP00000489431.2:p.Trp1741=
ENST00000644379.2:c.5411G=	ENSP00000496570.2:p.Trp1804=
ENST00000644555.2:c.1895G=	ENSP00000494614.2:p.Trp632=
ENST00000652672.2:c.5204G=	ENSP00000498906.2:p.Trp1735=
ENST00000484087.6:c.1907G=	ENSP00000419481.2:p.Trp636=
ENST00000700081.1:n.1228G=
ENST00000357654.9:c.5345G= MANE Select	ENSP00000350283.3:p.Trp1782=
ENST00000471181.7:c.5408G=	ENSP00000418960.2:p.Trp1803=
ENST00000644379.1:c.1732G=
ENST00000352993.7:c.1919G=	ENSP00000312236.5:p.Trp640=
ENST00000357654.7:c.5345G=	ENSP00000350283.3:p.Trp1782=
ENST00000461221.5:c.*5128G=	ENSP00000418548.1:n.*5128G=
ENST00000468300.5:c.2021-1479G=	ENSP00000417148.1:n.2021-1479G=
ENST00000471181.6:c.5408G=	ENSP00000418960.2:p.Trp1803=
ENST00000491747.6:c.2033G=	ENSP00000420705.2:p.Trp678=
ENST00000493795.5:c.5204G=	ENSP00000418775.1:p.Trp1735=
ENST00000586385.5:c.275G=	ENSP00000465818.1:p.Trp92=
ENST00000591534.5:c.818G=	ENSP00000467329.1:p.Trp273=
ENST00000591849.5:c.44G=	ENSP00000465347.1:p.Trp15=
NM_007294.3:c.5345G= , LRG_292t1:c.5345G=	NP_009225.1:p.Trp1782=
NM_007297.3:c.5204G=	NP_009228.2:p.Trp1735=
NM_007298.3:c.2033G=	NP_009229.2:p.Trp678=
NM_007299.3:c.2021-1479G=	NP_009230.2:n.2021-1479G=
NM_007300.3:c.5408G=	NP_009231.2:p.Trp1803=
NR_027676.1:n.5481G=
NM_007294.4:c.5345G= MANE Select	NP_009225.1:p.Trp1782=
NM_007297.4:c.5204G=	NP_009228.2:p.Trp1735=
NM_007299.4:c.2021-1479G=	NP_009230.2:n.2021-1479G=
NM_007300.4:c.5408G=	NP_009231.2:p.Trp1803=
NR_027676.2:n.5522G=