Canonical Allele Identifier: CA500146305

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 864897
• ClinVar RCV Id: RCV001072186
• dbSNP Id: rs1567771967
• MyVariant Identifiers: chr17:g.41219635A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067618A>C , CM000679.2:g.43067618A>C	GRCh38
NC_000017.10:g.41219635A>C , CM000679.1:g.41219635A>C	GRCh37
NC_000017.9:g.38473161A>C	NCBI36
NG_005905.2:g.150366T>G , LRG_292:g.150366T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5061T>G	ENSP00000417241.2:p.Val1687=
ENST00000470026.6:c.5064T>G	ENSP00000419274.2:p.Val1688=
ENST00000473961.6:c.4938T>G	ENSP00000420201.2:p.Val1646=
ENST00000476777.6:c.5058T>G	ENSP00000417554.2:p.Val1686=
ENST00000477152.6:c.4986T>G	ENSP00000419988.2:p.Val1662=
ENST00000478531.6:c.1752T>G	ENSP00000420412.2:p.Val584=
ENST00000489037.2:c.4986T>G	ENSP00000420781.2:p.Val1662=
ENST00000493919.6:c.1614T>G	ENSP00000418819.2:p.Val538=
ENST00000494123.6:c.5064T>G	ENSP00000419103.2:p.Val1688=
ENST00000497488.2:c.4176T>G	ENSP00000418986.2:p.Val1392=
ENST00000618469.2:c.5064T>G	ENSP00000478114.2:p.Val1688=
ENST00000634433.2:c.4941T>G	ENSP00000489431.2:p.Val1647=
ENST00000644379.2:c.5130T>G	ENSP00000496570.2:p.Val1710=
ENST00000644555.2:c.1614T>G	ENSP00000494614.2:p.Val538=
ENST00000652672.2:c.4923T>G	ENSP00000498906.2:p.Val1641=
ENST00000484087.6:c.1626T>G	ENSP00000419481.2:p.Val542=
ENST00000357654.9:c.5064T>G MANE Select	ENSP00000350283.3:p.Val1688=
ENST00000471181.7:c.5127T>G	ENSP00000418960.2:p.Val1709=
ENST00000644379.1:c.1451T>G
ENST00000352993.7:c.1638T>G	ENSP00000312236.5:p.Val546=
ENST00000357654.7:c.5064T>G	ENSP00000350283.3:p.Val1688=
ENST00000461221.5:c.*4847T>G	ENSP00000418548.1:n.*4847T>G
ENST00000468300.5:c.1752T>G	ENSP00000417148.1:p.Val584=
ENST00000471181.6:c.5127T>G	ENSP00000418960.2:p.Val1709=
ENST00000472490.1:n.217T>G
ENST00000478531.5:c.1752T>G	ENSP00000420412.1:p.Val584=
ENST00000484087.5:c.1377T>G	ENSP00000419481.1:p.Val459=
ENST00000491747.6:c.1752T>G	ENSP00000420705.2:p.Val584=
ENST00000493795.5:c.4923T>G	ENSP00000418775.1:p.Val1641=
ENST00000493919.5:c.1614T>G	ENSP00000418819.1:p.Val538=
ENST00000586385.5:c.5-3667T>G	ENSP00000465818.1:n.5-3667T>G
ENST00000591534.5:c.537T>G	ENSP00000467329.1:p.Val179=
ENST00000591849.5:c.-98-17428T>G	ENSP00000465347.1:n.-98-17428T>G
NM_007294.3:c.5064T>G , LRG_292t1:c.5064T>G	NP_009225.1:p.Val1688=
NM_007297.3:c.4923T>G	NP_009228.2:p.Val1641=
NM_007298.3:c.1752T>G	NP_009229.2:p.Val584=
NM_007299.3:c.1752T>G	NP_009230.2:p.Val584=
NM_007300.3:c.5127T>G	NP_009231.2:p.Val1709=
NR_027676.1:n.5200T>G
NM_007294.4:c.5064T>G MANE Select	NP_009225.1:p.Val1688=
NM_007297.4:c.4923T>G	NP_009228.2:p.Val1641=
NM_007299.4:c.1752T>G	NP_009230.2:p.Val584=
NM_007300.4:c.5127T>G	NP_009231.2:p.Val1709=
NR_027676.2:n.5241T>G