Canonical Allele Identifier: CA003233

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063931G>T , CM000679.2:g.43063931G>T	GRCh38
NC_000017.10:g.41215948G>T , CM000679.1:g.41215948G>T	GRCh37
NC_000017.9:g.38469474G>T	NCBI36
NG_005905.2:g.154053C>A , LRG_292:g.154053C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5095C>A MANE Select	NP_009225.1:p.Arg1699=
ENST00000357654.9:c.5095C>A MANE Select	ENSP00000350283.3:p.Arg1699=
NM_007294.3:c.5095C>A , LRG_292t1:c.5095C>A	NP_009225.1:p.Arg1699=
NM_007297.3:c.4954C>A	NP_009228.2:p.Arg1652=
NM_007297.4:c.4954C>A	NP_009228.2:p.Arg1652=
NM_007298.3:c.1783C>A	NP_009229.2:p.Arg595=
NM_007299.3:c.1783C>A	NP_009230.2:p.Arg595=
NM_007299.4:c.1783C>A	NP_009230.2:p.Arg595=
NM_007300.3:c.5158C>A	NP_009231.2:p.Arg1720=
NM_007300.4:c.5158C>A	NP_009231.2:p.Arg1720=
NR_027676.1:n.5231C>A
NR_027676.2:n.5272C>A
ENST00000352993.7:c.1669C>A	ENSP00000312236.5:p.Arg557=
ENST00000357654.7:c.5095C>A	ENSP00000350283.3:p.Arg1699=
ENST00000461221.5:c.*4878C>A	ENSP00000418548.1:n.*4878C>A
ENST00000461574.2:c.5092C>A	ENSP00000417241.2:p.Arg1698=
ENST00000468300.5:c.1783C>A	ENSP00000417148.1:p.Arg595=
ENST00000470026.6:c.5095C>A	ENSP00000419274.2:p.Arg1699=
ENST00000471181.6:c.5158C>A	ENSP00000418960.2:p.Arg1720=
ENST00000471181.7:c.5158C>A	ENSP00000418960.2:p.Arg1720=
ENST00000473961.6:c.4969C>A	ENSP00000420201.2:p.Arg1657=
ENST00000476777.6:c.5089C>A	ENSP00000417554.2:p.Arg1697=
ENST00000477152.6:c.5017C>A	ENSP00000419988.2:p.Arg1673=
ENST00000478531.5:c.1783C>A	ENSP00000420412.1:p.Arg595=
ENST00000478531.6:c.1783C>A	ENSP00000420412.2:p.Arg595=
ENST00000484087.5:c.1408C>A	ENSP00000419481.1:p.Arg470=
ENST00000484087.6:c.1657C>A	ENSP00000419481.2:p.Arg553=
ENST00000489037.2:c.5017C>A	ENSP00000420781.2:p.Arg1673=
ENST00000491747.6:c.1783C>A	ENSP00000420705.2:p.Arg595=
ENST00000493795.5:c.4954C>A	ENSP00000418775.1:p.Arg1652=
ENST00000493919.5:c.1645C>A	ENSP00000418819.1:p.Arg549=
ENST00000493919.6:c.1645C>A	ENSP00000418819.2:p.Arg549=
ENST00000494123.6:c.5095C>A	ENSP00000419103.2:p.Arg1699=
ENST00000497488.2:c.4207C>A	ENSP00000418986.2:p.Arg1403=
ENST00000586385.5:c.25C>A	ENSP00000465818.1:p.Arg9=
ENST00000591534.5:c.568C>A	ENSP00000467329.1:p.Arg190=
ENST00000591849.5:c.-98-13741C>A	ENSP00000465347.1:n.-98-13741C>A
ENST00000618469.2:c.5095C>A	ENSP00000478114.2:p.Arg1699=
ENST00000634433.2:c.4972C>A	ENSP00000489431.2:p.Arg1658=
ENST00000644379.1:c.1482C>A
ENST00000644379.2:c.5161C>A	ENSP00000496570.2:p.Arg1721=
ENST00000644555.2:c.1645C>A	ENSP00000494614.2:p.Arg549=
ENST00000652672.2:c.4954C>A	ENSP00000498906.2:p.Arg1652=