Canonical Allele Identifier: CA2260762030

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047696T= , CM000679.2:g.43047696T=	GRCh38
NC_000017.10:g.41199713T= , CM000679.1:g.41199713T=	GRCh37
NC_000017.9:g.38453239T=	NCBI36
NG_005905.2:g.170288A= , LRG_292:g.170288A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5411A=	ENSP00000417241.2:p.His1804=
ENST00000470026.6:c.5414A=	ENSP00000419274.2:p.His1805=
ENST00000473961.6:c.5288A=	ENSP00000420201.2:p.His1763=
ENST00000476777.6:c.5408A=	ENSP00000417554.2:p.His1803=
ENST00000477152.6:c.5336A=	ENSP00000419988.2:p.His1779=
ENST00000478531.6:c.2102A=	ENSP00000420412.2:p.His701=
ENST00000489037.2:c.5336A=	ENSP00000420781.2:p.His1779=
ENST00000493919.6:c.1964A=	ENSP00000418819.2:p.His655=
ENST00000494123.6:c.5414A=	ENSP00000419103.2:p.His1805=
ENST00000497488.2:c.4526A=	ENSP00000418986.2:p.His1509=
ENST00000618469.2:c.5414A=	ENSP00000478114.2:p.His1805=
ENST00000634433.2:c.5291A=	ENSP00000489431.2:p.His1764=
ENST00000644379.2:c.5480A=	ENSP00000496570.2:p.His1827=
ENST00000644555.2:c.1964A=	ENSP00000494614.2:p.His655=
ENST00000652672.2:c.5273A=	ENSP00000498906.2:p.His1758=
ENST00000484087.6:c.1976A=	ENSP00000419481.2:p.His659=
ENST00000700081.1:n.1297A=
ENST00000700082.1:n.778A=
ENST00000357654.9:c.5414A= MANE Select	ENSP00000350283.3:p.His1805=
ENST00000471181.7:c.5477A=	ENSP00000418960.2:p.His1826=
ENST00000644379.1:c.1801A=
ENST00000352993.7:c.1988A=	ENSP00000312236.5:p.His663=
ENST00000357654.7:c.5414A=	ENSP00000350283.3:p.His1805=
ENST00000461221.5:c.*5197A=	ENSP00000418548.1:n.*5197A=
ENST00000468300.5:c.2028A=	ENSP00000417148.1:p.Pro676=
ENST00000471181.6:c.5477A=	ENSP00000418960.2:p.His1826=
ENST00000491747.6:c.2102A=	ENSP00000420705.2:p.His701=
ENST00000493795.5:c.5273A=	ENSP00000418775.1:p.His1758=
ENST00000586385.5:c.344A=	ENSP00000465818.1:p.His115=
ENST00000591534.5:c.887A=	ENSP00000467329.1:p.His296=
ENST00000591849.5:c.113A=	ENSP00000465347.1:p.His38=
NM_007294.3:c.5414A= , LRG_292t1:c.5414A=	NP_009225.1:p.His1805=
NM_007297.3:c.5273A=	NP_009228.2:p.His1758=
NM_007298.3:c.2102A=	NP_009229.2:p.His701=
NM_007299.3:c.2028A=	NP_009230.2:p.Pro676=
NM_007300.3:c.5477A=	NP_009231.2:p.His1826=
NR_027676.1:n.5550A=
NM_007294.4:c.5414A= MANE Select	NP_009225.1:p.His1805=
NM_007297.4:c.5273A=	NP_009228.2:p.His1758=
NM_007299.4:c.2028A=	NP_009230.2:p.Pro676=
NM_007300.4:c.5477A=	NP_009231.2:p.His1826=
NR_027676.2:n.5591A=