Canonical Allele Identifier: CA002930

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55240
• ClinVar RCV Id: RCV000077580 ; RCV001386983 ; RCV002326775
• dbSNP Id: rs80357277
• MyVariant Identifiers: chr17:g.41226405C>A (hg19) ; chr17:g.43074388C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074388C>A , CM000679.2:g.43074388C>A	GRCh38
NC_000017.10:g.41226405C>A , CM000679.1:g.41226405C>A	GRCh37
NC_000017.9:g.38479931C>A	NCBI36
NG_005905.2:g.143596G>T , LRG_292:g.143596G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4615G>T	ENSP00000417241.2:p.Glu1539Ter
ENST00000470026.6:c.4618G>T	ENSP00000419274.2:p.Glu1540Ter
ENST00000473961.6:c.4492G>T	ENSP00000420201.2:p.Glu1498Ter
ENST00000476777.6:c.4612G>T	ENSP00000417554.2:p.Glu1538Ter
ENST00000477152.6:c.4540G>T	ENSP00000419988.2:p.Glu1514Ter
ENST00000478531.6:c.1306G>T	ENSP00000420412.2:p.Glu436Ter
ENST00000489037.2:c.4540G>T	ENSP00000420781.2:p.Glu1514Ter
ENST00000493919.6:c.1168G>T	ENSP00000418819.2:p.Glu390Ter
ENST00000494123.6:c.4618G>T	ENSP00000419103.2:p.Glu1540Ter
ENST00000497488.2:c.3730G>T	ENSP00000418986.2:p.Glu1244Ter
ENST00000618469.2:c.4618G>T	ENSP00000478114.2:p.Glu1540Ter
ENST00000634433.2:c.4495G>T	ENSP00000489431.2:p.Glu1499Ter
ENST00000644379.2:c.4684G>T	ENSP00000496570.2:p.Glu1562Ter
ENST00000644555.2:c.1168G>T	ENSP00000494614.2:p.Glu390Ter
ENST00000652672.2:c.4477G>T	ENSP00000498906.2:p.Glu1493Ter
ENST00000484087.6:c.1180G>T	ENSP00000419481.2:p.Glu394Ter
ENST00000700182.1:c.1225G>T	ENSP00000514849.1:p.Glu409Ter
ENST00000357654.9:c.4618G>T MANE Select	ENSP00000350283.3:p.Glu1540Ter
ENST00000471181.7:c.4681G>T	ENSP00000418960.2:p.Glu1561Ter
ENST00000644379.1:c.1005G>T
ENST00000352993.7:c.1192G>T	ENSP00000312236.5:p.Glu398Ter
ENST00000357654.7:c.4618G>T	ENSP00000350283.3:p.Glu1540Ter
ENST00000461221.5:c.*4401G>T	ENSP00000418548.1:n.*4401G>T
ENST00000468300.5:c.1306G>T	ENSP00000417148.1:p.Glu436Ter
ENST00000471181.6:c.4681G>T	ENSP00000418960.2:p.Glu1561Ter
ENST00000478531.5:c.1306G>T	ENSP00000420412.1:p.Glu436Ter
ENST00000484087.5:c.931G>T	ENSP00000419481.1:p.Glu311Ter
ENST00000491747.6:c.1306G>T	ENSP00000420705.2:p.Glu436Ter
ENST00000493795.5:c.4477G>T	ENSP00000418775.1:p.Glu1493Ter
ENST00000493919.5:c.1168G>T	ENSP00000418819.1:p.Glu390Ter
ENST00000586385.5:c.5-10437G>T	ENSP00000465818.1:n.5-10437G>T
ENST00000591534.5:c.91G>T	ENSP00000467329.1:p.Glu31Ter
ENST00000591849.5:c.-98-24198G>T	ENSP00000465347.1:n.-98-24198G>T
NM_007294.3:c.4618G>T , LRG_292t1:c.4618G>T	NP_009225.1:p.Glu1540Ter
NM_007297.3:c.4477G>T	NP_009228.2:p.Glu1493Ter
NM_007298.3:c.1306G>T	NP_009229.2:p.Glu436Ter
NM_007299.3:c.1306G>T	NP_009230.2:p.Glu436Ter
NM_007300.3:c.4681G>T	NP_009231.2:p.Glu1561Ter
NR_027676.1:n.4754G>T
NM_007294.4:c.4618G>T MANE Select	NP_009225.1:p.Glu1540Ter
NM_007297.4:c.4477G>T	NP_009228.2:p.Glu1493Ter
NM_007299.4:c.1306G>T	NP_009230.2:p.Glu436Ter
NM_007300.4:c.4681G>T	NP_009231.2:p.Glu1561Ter
NR_027676.2:n.4795G>T