Canonical Allele Identifier: CA2260763747

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051111T= , CM000679.2:g.43051111T=	GRCh38
NC_000017.10:g.41203128T= , CM000679.1:g.41203128T=	GRCh37
NC_000017.9:g.38456654T=	NCBI36
NG_005905.2:g.166873A= , LRG_292:g.166873A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5281A=	ENSP00000417241.2:p.Arg1761=
ENST00000470026.6:c.5284A=	ENSP00000419274.2:p.Arg1762=
ENST00000473961.6:c.5158A=	ENSP00000420201.2:p.Arg1720=
ENST00000476777.6:c.5278A=	ENSP00000417554.2:p.Arg1760=
ENST00000477152.6:c.5206A=	ENSP00000419988.2:p.Arg1736=
ENST00000478531.6:c.1972A=	ENSP00000420412.2:p.Arg658=
ENST00000489037.2:c.5206A=	ENSP00000420781.2:p.Arg1736=
ENST00000493919.6:c.1834A=	ENSP00000418819.2:p.Arg612=
ENST00000494123.6:c.5284A=	ENSP00000419103.2:p.Arg1762=
ENST00000497488.2:c.4396A=	ENSP00000418986.2:p.Arg1466=
ENST00000618469.2:c.5284A=	ENSP00000478114.2:p.Arg1762=
ENST00000634433.2:c.5161A=	ENSP00000489431.2:p.Arg1721=
ENST00000644379.2:c.5350A=	ENSP00000496570.2:p.Arg1784=
ENST00000644555.2:c.1834A=	ENSP00000494614.2:p.Arg612=
ENST00000652672.2:c.5143A=	ENSP00000498906.2:p.Arg1715=
ENST00000484087.6:c.1846A=	ENSP00000419481.2:p.Arg616=
ENST00000357654.9:c.5284A= MANE Select	ENSP00000350283.3:p.Arg1762=
ENST00000471181.7:c.5347A=	ENSP00000418960.2:p.Arg1783=
ENST00000644379.1:c.1671A=
ENST00000352993.7:c.1858A=	ENSP00000312236.5:p.Arg620=
ENST00000357654.7:c.5284A=	ENSP00000350283.3:p.Arg1762=
ENST00000461221.5:c.*5067A=	ENSP00000418548.1:n.*5067A=
ENST00000468300.5:c.1972A=	ENSP00000417148.1:p.Arg658=
ENST00000471181.6:c.5347A=	ENSP00000418960.2:p.Arg1783=
ENST00000491747.6:c.1972A=	ENSP00000420705.2:p.Arg658=
ENST00000493795.5:c.5143A=	ENSP00000418775.1:p.Arg1715=
ENST00000586385.5:c.214A=	ENSP00000465818.1:p.Arg72=
ENST00000591534.5:c.757A=	ENSP00000467329.1:p.Arg253=
ENST00000591849.5:c.-98-921A=	ENSP00000465347.1:n.-98-921A=
NM_007294.3:c.5284A= , LRG_292t1:c.5284A=	NP_009225.1:p.Arg1762=
NM_007297.3:c.5143A=	NP_009228.2:p.Arg1715=
NM_007298.3:c.1972A=	NP_009229.2:p.Arg658=
NM_007299.3:c.1972A=	NP_009230.2:p.Arg658=
NM_007300.3:c.5347A=	NP_009231.2:p.Arg1783=
NR_027676.1:n.5420A=
NM_007294.4:c.5284A= MANE Select	NP_009225.1:p.Arg1762=
NM_007297.4:c.5143A=	NP_009228.2:p.Arg1715=
NM_007299.4:c.1972A=	NP_009230.2:p.Arg658=
NM_007300.4:c.5347A=	NP_009231.2:p.Arg1783=
NR_027676.2:n.5461A=