Canonical Allele Identifier: CA059434

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091018C>T , CM000679.2:g.43091018C>T	GRCh38
NC_000017.10:g.41243035C>T , CM000679.1:g.41243035C>T	GRCh37
NC_000017.9:g.38496561C>T	NCBI36
NG_005905.2:g.126966G>A , LRG_292:g.126966G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4111G>A MANE Select	NP_009225.1:p.Gly1371Arg
ENST00000357654.9:c.4111G>A MANE Select	ENSP00000350283.3:p.Gly1371Arg
NM_007294.3:c.4111G>A , LRG_292t1:c.4111G>A	NP_009225.1:p.Gly1371Arg
NM_007297.3:c.3970G>A	NP_009228.2:p.Gly1324Arg
NM_007297.4:c.3970G>A	NP_009228.2:p.Gly1324Arg
NM_007298.3:c.802G>A	NP_009229.2:p.Gly268Arg
NM_007299.3:c.802G>A	NP_009230.2:p.Gly268Arg
NM_007299.4:c.802G>A	NP_009230.2:p.Gly268Arg
NM_007300.3:c.4111G>A	NP_009231.2:p.Gly1371Arg
NM_007300.4:c.4111G>A	NP_009231.2:p.Gly1371Arg
NR_027676.1:n.4247G>A
NR_027676.2:n.4288G>A
ENST00000352993.7:c.685G>A	ENSP00000312236.5:p.Gly229Arg
ENST00000357654.7:c.4111G>A	ENSP00000350283.3:p.Gly1371Arg
ENST00000461221.5:c.*3894G>A	ENSP00000418548.1:n.*3894G>A
ENST00000461574.1:c.405G>A
ENST00000461574.2:c.4111G>A	ENSP00000417241.2:p.Gly1371Arg
ENST00000468300.5:c.802G>A	ENSP00000417148.1:p.Gly268Arg
ENST00000470026.6:c.4111G>A	ENSP00000419274.2:p.Gly1371Arg
ENST00000471181.6:c.4111G>A	ENSP00000418960.2:p.Gly1371Arg
ENST00000471181.7:c.4111G>A	ENSP00000418960.2:p.Gly1371Arg
ENST00000473961.6:c.3985G>A	ENSP00000420201.2:p.Gly1329Arg
ENST00000476777.6:c.4108G>A	ENSP00000417554.2:p.Gly1370Arg
ENST00000477152.6:c.4033G>A	ENSP00000419988.2:p.Gly1345Arg
ENST00000478531.5:c.799G>A	ENSP00000420412.1:p.Gly267Arg
ENST00000478531.6:c.799G>A	ENSP00000420412.2:p.Gly267Arg
ENST00000484087.5:c.424G>A	ENSP00000419481.1:p.Gly142Arg
ENST00000484087.6:c.679G>A	ENSP00000419481.2:p.Gly227Arg
ENST00000487825.5:c.427G>A	ENSP00000418212.1:p.Gly143Arg
ENST00000489037.2:c.4033G>A	ENSP00000420781.2:p.Gly1345Arg
ENST00000491747.6:c.802G>A	ENSP00000420705.2:p.Gly268Arg
ENST00000493795.5:c.3970G>A	ENSP00000418775.1:p.Gly1324Arg
ENST00000493919.5:c.661G>A	ENSP00000418819.1:p.Gly221Arg
ENST00000493919.6:c.661G>A	ENSP00000418819.2:p.Gly221Arg
ENST00000494123.6:c.4111G>A	ENSP00000419103.2:p.Gly1371Arg
ENST00000497488.2:c.3223G>A	ENSP00000418986.2:p.Gly1075Arg
ENST00000586385.5:c.5-27067G>A	ENSP00000465818.1:n.5-27067G>A
ENST00000591534.5:c.-43-16497G>A	ENSP00000467329.1:n.-43-16497G>A
ENST00000591849.5:c.-99+34253G>A	ENSP00000465347.1:n.-99+34253G>A
ENST00000618469.2:c.4111G>A	ENSP00000478114.2:p.Gly1371Arg
ENST00000634433.2:c.3988G>A	ENSP00000489431.2:p.Gly1330Arg
ENST00000644379.1:c.432G>A
ENST00000644379.2:c.4111G>A	ENSP00000496570.2:p.Gly1371Arg
ENST00000644555.2:c.661G>A	ENSP00000494614.2:p.Gly221Arg
ENST00000652672.2:c.3970G>A	ENSP00000498906.2:p.Gly1324Arg
ENST00000700182.1:c.721G>A	ENSP00000514849.1:p.Gly241Arg