Canonical Allele Identifier: CA2260771384

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067666G= , CM000679.2:g.43067666G=	GRCh38
NC_000017.10:g.41219683G= , CM000679.1:g.41219683G=	GRCh37
NC_000017.9:g.38473209G=	NCBI36
NG_005905.2:g.150318C= , LRG_292:g.150318C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5013C=	ENSP00000417241.2:p.His1671=
ENST00000470026.6:c.5016C=	ENSP00000419274.2:p.His1672=
ENST00000473961.6:c.4890C=	ENSP00000420201.2:p.His1630=
ENST00000476777.6:c.5010C=	ENSP00000417554.2:p.His1670=
ENST00000477152.6:c.4938C=	ENSP00000419988.2:p.His1646=
ENST00000478531.6:c.1704C=	ENSP00000420412.2:p.His568=
ENST00000489037.2:c.4938C=	ENSP00000420781.2:p.His1646=
ENST00000493919.6:c.1566C=	ENSP00000418819.2:p.His522=
ENST00000494123.6:c.5016C=	ENSP00000419103.2:p.His1672=
ENST00000497488.2:c.4128C=	ENSP00000418986.2:p.His1376=
ENST00000618469.2:c.5016C=	ENSP00000478114.2:p.His1672=
ENST00000634433.2:c.4893C=	ENSP00000489431.2:p.His1631=
ENST00000644379.2:c.5082C=	ENSP00000496570.2:p.His1694=
ENST00000644555.2:c.1566C=	ENSP00000494614.2:p.His522=
ENST00000652672.2:c.4875C=	ENSP00000498906.2:p.His1625=
ENST00000484087.6:c.1578C=	ENSP00000419481.2:p.His526=
ENST00000357654.9:c.5016C= MANE Select	ENSP00000350283.3:p.His1672=
ENST00000471181.7:c.5079C=	ENSP00000418960.2:p.His1693=
ENST00000644379.1:c.1403C=
ENST00000352993.7:c.1590C=	ENSP00000312236.5:p.His530=
ENST00000357654.7:c.5016C=	ENSP00000350283.3:p.His1672=
ENST00000461221.5:c.*4799C=	ENSP00000418548.1:n.*4799C=
ENST00000468300.5:c.1704C=	ENSP00000417148.1:p.His568=
ENST00000471181.6:c.5079C=	ENSP00000418960.2:p.His1693=
ENST00000472490.1:n.169C=
ENST00000478531.5:c.1704C=	ENSP00000420412.1:p.His568=
ENST00000484087.5:c.1329C=	ENSP00000419481.1:p.His443=
ENST00000491747.6:c.1704C=	ENSP00000420705.2:p.His568=
ENST00000493795.5:c.4875C=	ENSP00000418775.1:p.His1625=
ENST00000493919.5:c.1566C=	ENSP00000418819.1:p.His522=
ENST00000586385.5:c.5-3715C=	ENSP00000465818.1:n.5-3715C=
ENST00000591534.5:c.489C=	ENSP00000467329.1:p.His163=
ENST00000591849.5:c.-98-17476C=	ENSP00000465347.1:n.-98-17476C=
NM_007294.3:c.5016C= , LRG_292t1:c.5016C=	NP_009225.1:p.His1672=
NM_007297.3:c.4875C=	NP_009228.2:p.His1625=
NM_007298.3:c.1704C=	NP_009229.2:p.His568=
NM_007299.3:c.1704C=	NP_009230.2:p.His568=
NM_007300.3:c.5079C=	NP_009231.2:p.His1693=
NR_027676.1:n.5152C=
NM_007294.4:c.5016C= MANE Select	NP_009225.1:p.His1672=
NM_007297.4:c.4875C=	NP_009228.2:p.His1625=
NM_007299.4:c.1704C=	NP_009230.2:p.His568=
NM_007300.4:c.5079C=	NP_009231.2:p.His1693=
NR_027676.2:n.5193C=