Canonical Allele Identifier: CA10590790

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865635
• ClinVar RCV Id: RCV001073093
• dbSNP Id: rs2051096772
• MyVariant Identifiers: chr17:g.41201208T>C (hg19) ; chr17:g.43049191T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049191T>C , CM000679.2:g.43049191T>C	GRCh38
NC_000017.10:g.41201208T>C , CM000679.1:g.41201208T>C	GRCh37
NC_000017.9:g.38454734T>C	NCBI36
NG_005905.2:g.168793A>G , LRG_292:g.168793A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5333A>G	ENSP00000417241.2:p.Gln1778Arg
ENST00000470026.6:c.5336A>G	ENSP00000419274.2:p.Gln1779Arg
ENST00000473961.6:c.5210A>G	ENSP00000420201.2:p.Gln1737Arg
ENST00000476777.6:c.5330A>G	ENSP00000417554.2:p.Gln1777Arg
ENST00000477152.6:c.5258A>G	ENSP00000419988.2:p.Gln1753Arg
ENST00000478531.6:c.2024A>G	ENSP00000420412.2:p.Gln675Arg
ENST00000489037.2:c.5258A>G	ENSP00000420781.2:p.Gln1753Arg
ENST00000493919.6:c.1886A>G	ENSP00000418819.2:p.Gln629Arg
ENST00000494123.6:c.5336A>G	ENSP00000419103.2:p.Gln1779Arg
ENST00000497488.2:c.4448A>G	ENSP00000418986.2:p.Gln1483Arg
ENST00000618469.2:c.5336A>G	ENSP00000478114.2:p.Gln1779Arg
ENST00000634433.2:c.5213A>G	ENSP00000489431.2:p.Gln1738Arg
ENST00000644379.2:c.5402A>G	ENSP00000496570.2:p.Gln1801Arg
ENST00000644555.2:c.1886A>G	ENSP00000494614.2:p.Gln629Arg
ENST00000652672.2:c.5195A>G	ENSP00000498906.2:p.Gln1732Arg
ENST00000484087.6:c.1898A>G	ENSP00000419481.2:p.Gln633Arg
ENST00000700081.1:n.1219A>G
ENST00000357654.9:c.5336A>G MANE Select	ENSP00000350283.3:p.Gln1779Arg
ENST00000471181.7:c.5399A>G	ENSP00000418960.2:p.Gln1800Arg
ENST00000644379.1:c.1723A>G
ENST00000352993.7:c.1910A>G	ENSP00000312236.5:p.Gln637Arg
ENST00000357654.7:c.5336A>G	ENSP00000350283.3:p.Gln1779Arg
ENST00000461221.5:c.*5119A>G	ENSP00000418548.1:n.*5119A>G
ENST00000468300.5:c.2021-1488A>G	ENSP00000417148.1:n.2021-1488A>G
ENST00000471181.6:c.5399A>G	ENSP00000418960.2:p.Gln1800Arg
ENST00000491747.6:c.2024A>G	ENSP00000420705.2:p.Gln675Arg
ENST00000493795.5:c.5195A>G	ENSP00000418775.1:p.Gln1732Arg
ENST00000586385.5:c.266A>G	ENSP00000465818.1:p.Gln89Arg
ENST00000591534.5:c.809A>G	ENSP00000467329.1:p.Gln270Arg
ENST00000591849.5:c.35A>G	ENSP00000465347.1:p.Gln12Arg
NM_007294.3:c.5336A>G , LRG_292t1:c.5336A>G	NP_009225.1:p.Gln1779Arg
NM_007297.3:c.5195A>G	NP_009228.2:p.Gln1732Arg
NM_007298.3:c.2024A>G	NP_009229.2:p.Gln675Arg
NM_007299.3:c.2021-1488A>G	NP_009230.2:n.2021-1488A>G
NM_007300.3:c.5399A>G	NP_009231.2:p.Gln1800Arg
NR_027676.1:n.5472A>G
NM_007294.4:c.5336A>G MANE Select	NP_009225.1:p.Gln1779Arg
NM_007297.4:c.5195A>G	NP_009228.2:p.Gln1732Arg
NM_007299.4:c.2021-1488A>G	NP_009230.2:n.2021-1488A>G
NM_007300.4:c.5399A>G	NP_009231.2:p.Gln1800Arg
NR_027676.2:n.5513A>G