Canonical Allele Identifier: CA10591568

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868471
• ClinVar RCV Id: RCV001077378
• dbSNP Id: rs2052356167
• gnomAD v4: 17-43070935-T-C
• MyVariant Identifiers: chr17:g.41222952T>C (hg19) ; chr17:g.43070935T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070935T>C , CM000679.2:g.43070935T>C	GRCh38
NC_000017.10:g.41222952T>C , CM000679.1:g.41222952T>C	GRCh37
NC_000017.9:g.38476478T>C	NCBI36
NG_005905.2:g.147049A>G , LRG_292:g.147049A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4976A>G	ENSP00000417241.2:p.Glu1659Gly
ENST00000470026.6:c.4979A>G	ENSP00000419274.2:p.Glu1660Gly
ENST00000473961.6:c.4853A>G	ENSP00000420201.2:p.Glu1618Gly
ENST00000476777.6:c.4973A>G	ENSP00000417554.2:p.Glu1658Gly
ENST00000477152.6:c.4901A>G	ENSP00000419988.2:p.Glu1634Gly
ENST00000478531.6:c.1667A>G	ENSP00000420412.2:p.Glu556Gly
ENST00000489037.2:c.4901A>G	ENSP00000420781.2:p.Glu1634Gly
ENST00000493919.6:c.1529A>G	ENSP00000418819.2:p.Glu510Gly
ENST00000494123.6:c.4979A>G	ENSP00000419103.2:p.Glu1660Gly
ENST00000497488.2:c.4091A>G	ENSP00000418986.2:p.Glu1364Gly
ENST00000618469.2:c.4979A>G	ENSP00000478114.2:p.Glu1660Gly
ENST00000634433.2:c.4856A>G	ENSP00000489431.2:p.Glu1619Gly
ENST00000644379.2:c.5045A>G	ENSP00000496570.2:p.Glu1682Gly
ENST00000644555.2:c.1529A>G	ENSP00000494614.2:p.Glu510Gly
ENST00000652672.2:c.4838A>G	ENSP00000498906.2:p.Glu1613Gly
ENST00000484087.6:c.1541A>G	ENSP00000419481.2:p.Glu514Gly
ENST00000700182.1:c.1586A>G	ENSP00000514849.1:p.Glu529Gly
ENST00000357654.9:c.4979A>G MANE Select	ENSP00000350283.3:p.Glu1660Gly
ENST00000471181.7:c.5042A>G	ENSP00000418960.2:p.Glu1681Gly
ENST00000644379.1:c.1366A>G
ENST00000352993.7:c.1553A>G	ENSP00000312236.5:p.Glu518Gly
ENST00000357654.7:c.4979A>G	ENSP00000350283.3:p.Glu1660Gly
ENST00000461221.5:c.*4762A>G	ENSP00000418548.1:n.*4762A>G
ENST00000468300.5:c.1667A>G	ENSP00000417148.1:p.Glu556Gly
ENST00000471181.6:c.5042A>G	ENSP00000418960.2:p.Glu1681Gly
ENST00000472490.1:n.132A>G
ENST00000478531.5:c.1667A>G	ENSP00000420412.1:p.Glu556Gly
ENST00000484087.5:c.1292A>G	ENSP00000419481.1:p.Glu431Gly
ENST00000491747.6:c.1667A>G	ENSP00000420705.2:p.Glu556Gly
ENST00000493795.5:c.4838A>G	ENSP00000418775.1:p.Glu1613Gly
ENST00000493919.5:c.1529A>G	ENSP00000418819.1:p.Glu510Gly
ENST00000586385.5:c.5-6984A>G	ENSP00000465818.1:n.5-6984A>G
ENST00000591534.5:c.452A>G	ENSP00000467329.1:p.Glu151Gly
ENST00000591849.5:c.-98-20745A>G	ENSP00000465347.1:n.-98-20745A>G
NM_007294.3:c.4979A>G , LRG_292t1:c.4979A>G	NP_009225.1:p.Glu1660Gly
NM_007297.3:c.4838A>G	NP_009228.2:p.Glu1613Gly
NM_007298.3:c.1667A>G	NP_009229.2:p.Glu556Gly
NM_007299.3:c.1667A>G	NP_009230.2:p.Glu556Gly
NM_007300.3:c.5042A>G	NP_009231.2:p.Glu1681Gly
NR_027676.1:n.5115A>G
NM_007294.4:c.4979A>G MANE Select	NP_009225.1:p.Glu1660Gly
NM_007297.4:c.4838A>G	NP_009228.2:p.Glu1613Gly
NM_007299.4:c.1667A>G	NP_009230.2:p.Glu556Gly
NM_007300.4:c.5042A>G	NP_009231.2:p.Glu1681Gly
NR_027676.2:n.5156A>G