Canonical Allele Identifier: CA2260761042

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045712T= , CM000679.2:g.43045712T=	GRCh38
NC_000017.10:g.41197729T= , CM000679.1:g.41197729T=	GRCh37
NC_000017.9:g.38451255T=	NCBI36
NG_005905.2:g.172272A= , LRG_292:g.172272A=

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5558A= MANE Select	NP_009225.1:p.Tyr1853=
ENST00000357654.9:c.5558A= MANE Select	ENSP00000350283.3:p.Tyr1853=
NM_007294.3:c.5558A= , LRG_292t1:c.5558A=	NP_009225.1:p.Tyr1853=
NM_007297.3:c.5417A=	NP_009228.2:p.Tyr1806=
NM_007297.4:c.5417A=	NP_009228.2:p.Tyr1806=
NM_007298.3:c.2246A=	NP_009229.2:p.Tyr749=
NM_007299.3:c.*72A=	NP_009230.2:n.*72A=
NM_007299.4:c.*72A=	NP_009230.2:n.*72A=
NM_007300.3:c.5621A=	NP_009231.2:p.Tyr1874=
NM_007300.4:c.5621A=	NP_009231.2:p.Tyr1874=
NR_027676.1:n.5694A=
NR_027676.2:n.5735A=
ENST00000352993.7:c.2132A=	ENSP00000312236.5:p.Tyr711=
ENST00000357654.7:c.5558A=	ENSP00000350283.3:p.Tyr1853=
ENST00000461221.5:c.*5341A=	ENSP00000418548.1:n.*5341A=
ENST00000461574.2:c.5555A=	ENSP00000417241.2:p.Tyr1852=
ENST00000468300.5:c.*72A=	ENSP00000417148.1:n.*72A=
ENST00000470026.6:c.5558A=	ENSP00000419274.2:p.Tyr1853=
ENST00000471181.6:c.5621A=	ENSP00000418960.2:p.Tyr1874=
ENST00000471181.7:c.5621A=	ENSP00000418960.2:p.Tyr1874=
ENST00000473961.6:c.5432A=	ENSP00000420201.2:p.Tyr1811=
ENST00000476777.6:c.5552A=	ENSP00000417554.2:p.Tyr1851=
ENST00000477152.6:c.5480A=	ENSP00000419988.2:p.Tyr1827=
ENST00000478531.6:c.2246A=	ENSP00000420412.2:p.Tyr749=
ENST00000484087.6:c.2120A=	ENSP00000419481.2:p.Tyr707=
ENST00000489037.2:c.5480A=	ENSP00000420781.2:p.Tyr1827=
ENST00000491747.6:c.2246A=	ENSP00000420705.2:p.Tyr749=
ENST00000493795.5:c.5417A=	ENSP00000418775.1:p.Tyr1806=
ENST00000493919.6:c.2108A=	ENSP00000418819.2:p.Tyr703=
ENST00000494123.6:c.5558A=	ENSP00000419103.2:p.Tyr1853=
ENST00000497488.2:c.4670A=	ENSP00000418986.2:p.Tyr1557=
ENST00000586385.5:c.488A=	ENSP00000465818.1:p.Tyr163=
ENST00000591534.5:c.1031A=	ENSP00000467329.1:p.Tyr344=
ENST00000591849.5:c.257A=	ENSP00000465347.1:p.Tyr86=
ENST00000618469.2:c.5558A=	ENSP00000478114.2:p.Tyr1853=
ENST00000634433.2:c.5435A=	ENSP00000489431.2:p.Tyr1812=
ENST00000644379.1:c.1945A=
ENST00000644379.2:c.5624A=	ENSP00000496570.2:p.Tyr1875=
ENST00000644555.2:c.2108A=	ENSP00000494614.2:p.Tyr703=
ENST00000652672.2:c.5417A=	ENSP00000498906.2:p.Tyr1806=
ENST00000700081.1:n.1441A=
ENST00000700082.1:n.922A=