Canonical Allele Identifier: CA2260761973

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047646G= , CM000679.2:g.43047646G=	GRCh38
NC_000017.10:g.41199663G= , CM000679.1:g.41199663G=	GRCh37
NC_000017.9:g.38453189G=	NCBI36
NG_005905.2:g.170338C= , LRG_292:g.170338C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5461C=	ENSP00000417241.2:p.His1821=
ENST00000470026.6:c.5464C=	ENSP00000419274.2:p.His1822=
ENST00000473961.6:c.5338C=	ENSP00000420201.2:p.His1780=
ENST00000476777.6:c.5458C=	ENSP00000417554.2:p.His1820=
ENST00000477152.6:c.5386C=	ENSP00000419988.2:p.His1796=
ENST00000478531.6:c.2152C=	ENSP00000420412.2:p.His718=
ENST00000489037.2:c.5386C=	ENSP00000420781.2:p.His1796=
ENST00000493919.6:c.2014C=	ENSP00000418819.2:p.His672=
ENST00000494123.6:c.5464C=	ENSP00000419103.2:p.His1822=
ENST00000497488.2:c.4576C=	ENSP00000418986.2:p.His1526=
ENST00000618469.2:c.5464C=	ENSP00000478114.2:p.His1822=
ENST00000634433.2:c.5341C=	ENSP00000489431.2:p.His1781=
ENST00000644379.2:c.5530C=	ENSP00000496570.2:p.His1844=
ENST00000644555.2:c.2014C=	ENSP00000494614.2:p.His672=
ENST00000652672.2:c.5323C=	ENSP00000498906.2:p.His1775=
ENST00000484087.6:c.2026C=	ENSP00000419481.2:p.His676=
ENST00000700081.1:n.1347C=
ENST00000700082.1:n.828C=
ENST00000357654.9:c.5464C= MANE Select	ENSP00000350283.3:p.His1822=
ENST00000471181.7:c.5527C=	ENSP00000418960.2:p.His1843=
ENST00000644379.1:c.1851C=
ENST00000352993.7:c.2038C=	ENSP00000312236.5:p.His680=
ENST00000357654.7:c.5464C=	ENSP00000350283.3:p.His1822=
ENST00000461221.5:c.*5247C=	ENSP00000418548.1:n.*5247C=
ENST00000468300.5:c.2078C=	ENSP00000417148.1:p.Pro693=
ENST00000471181.6:c.5527C=	ENSP00000418960.2:p.His1843=
ENST00000491747.6:c.2152C=	ENSP00000420705.2:p.His718=
ENST00000493795.5:c.5323C=	ENSP00000418775.1:p.His1775=
ENST00000586385.5:c.394C=	ENSP00000465818.1:p.His132=
ENST00000591534.5:c.937C=	ENSP00000467329.1:p.His313=
ENST00000591849.5:c.163C=	ENSP00000465347.1:p.His55=
NM_007294.3:c.5464C= , LRG_292t1:c.5464C=	NP_009225.1:p.His1822=
NM_007297.3:c.5323C=	NP_009228.2:p.His1775=
NM_007298.3:c.2152C=	NP_009229.2:p.His718=
NM_007299.3:c.2078C=	NP_009230.2:p.Pro693=
NM_007300.3:c.5527C=	NP_009231.2:p.His1843=
NR_027676.1:n.5600C=
NM_007294.4:c.5464C= MANE Select	NP_009225.1:p.His1822=
NM_007297.4:c.5323C=	NP_009228.2:p.His1775=
NM_007299.4:c.2078C=	NP_009230.2:p.Pro693=
NM_007300.4:c.5527C=	NP_009231.2:p.His1843=
NR_027676.2:n.5641C=