Canonical Allele Identifier: CA2260778075

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082556T= , CM000679.2:g.43082556T=	GRCh38
NC_000017.10:g.41234573T= , CM000679.1:g.41234573T=	GRCh37
NC_000017.9:g.38488099T=	NCBI36
NG_005905.2:g.135428A= , LRG_292:g.135428A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4205A=	ENSP00000417241.2:p.His1402=
ENST00000470026.6:c.4205A=	ENSP00000419274.2:p.His1402=
ENST00000473961.6:c.4079A=	ENSP00000420201.2:p.His1360=
ENST00000476777.6:c.4199A=	ENSP00000417554.2:p.His1400=
ENST00000477152.6:c.4127A=	ENSP00000419988.2:p.His1376=
ENST00000478531.6:c.893A=	ENSP00000420412.2:p.His298=
ENST00000489037.2:c.4127A=	ENSP00000420781.2:p.His1376=
ENST00000493919.6:c.755A=	ENSP00000418819.2:p.His252=
ENST00000494123.6:c.4205A=	ENSP00000419103.2:p.His1402=
ENST00000497488.2:c.3317A=	ENSP00000418986.2:p.His1106=
ENST00000618469.2:c.4205A=	ENSP00000478114.2:p.His1402=
ENST00000634433.2:c.4082A=	ENSP00000489431.2:p.His1361=
ENST00000644379.2:c.4205A=	ENSP00000496570.2:p.His1402=
ENST00000644555.2:c.755A=	ENSP00000494614.2:p.His252=
ENST00000652672.2:c.4064A=	ENSP00000498906.2:p.His1355=
ENST00000484087.6:c.770A=	ENSP00000419481.2:p.His257=
ENST00000700182.1:c.815A=	ENSP00000514849.1:p.His272=
ENST00000357654.9:c.4205A= MANE Select	ENSP00000350283.3:p.His1402=
ENST00000471181.7:c.4205A=	ENSP00000418960.2:p.His1402=
ENST00000644379.1:c.526A=
ENST00000352993.7:c.779A=	ENSP00000312236.5:p.His260=
ENST00000357654.7:c.4205A=	ENSP00000350283.3:p.His1402=
ENST00000461221.5:c.*3988A=	ENSP00000418548.1:n.*3988A=
ENST00000461574.1:c.499A=
ENST00000468300.5:c.896A=	ENSP00000417148.1:p.His299=
ENST00000471181.6:c.4205A=	ENSP00000418960.2:p.His1402=
ENST00000478531.5:c.893A=	ENSP00000420412.1:p.His298=
ENST00000484087.5:c.518A=	ENSP00000419481.1:p.His173=
ENST00000487825.5:c.521A=	ENSP00000418212.1:p.His174=
ENST00000491747.6:c.896A=	ENSP00000420705.2:p.His299=
ENST00000493795.5:c.4064A=	ENSP00000418775.1:p.His1355=
ENST00000493919.5:c.755A=	ENSP00000418819.1:p.His252=
ENST00000586385.5:c.5-18605A=	ENSP00000465818.1:n.5-18605A=
ENST00000591534.5:c.-43-8035A=	ENSP00000467329.1:n.-43-8035A=
ENST00000591849.5:c.-98-32366A=	ENSP00000465347.1:n.-98-32366A=
ENST00000621897.1:n.99A=
NM_007294.3:c.4205A= , LRG_292t1:c.4205A=	NP_009225.1:p.His1402=
NM_007297.3:c.4064A=	NP_009228.2:p.His1355=
NM_007298.3:c.896A=	NP_009229.2:p.His299=
NM_007299.3:c.896A=	NP_009230.2:p.His299=
NM_007300.3:c.4205A=	NP_009231.2:p.His1402=
NR_027676.1:n.4341A=
NM_007294.4:c.4205A= MANE Select	NP_009225.1:p.His1402=
NM_007297.4:c.4064A=	NP_009228.2:p.His1355=
NM_007299.4:c.896A=	NP_009230.2:p.His299=
NM_007300.4:c.4205A=	NP_009231.2:p.His1402=
NR_027676.2:n.4382A=