Canonical Allele Identifier: CA10591005

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867916
• ClinVar RCV Id: RCV001076708
• dbSNP Id: rs758739620
• MyVariant Identifiers: chr17:g.41209072T>G (hg19) ; chr17:g.43057055T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057055T>G , CM000679.2:g.43057055T>G	GRCh38
NC_000017.10:g.41209072T>G , CM000679.1:g.41209072T>G	GRCh37
NC_000017.9:g.38462598T>G	NCBI36
NG_005905.2:g.160929A>C , LRG_292:g.160929A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5271A>C	ENSP00000417241.2:p.Arg1757Ser
ENST00000470026.6:c.5274A>C	ENSP00000419274.2:p.Arg1758Ser
ENST00000473961.6:c.5148A>C	ENSP00000420201.2:p.Arg1716Ser
ENST00000476777.6:c.5268A>C	ENSP00000417554.2:p.Arg1756Ser
ENST00000477152.6:c.5196A>C	ENSP00000419988.2:p.Arg1732Ser
ENST00000478531.6:c.1962A>C	ENSP00000420412.2:p.Arg654Ser
ENST00000489037.2:c.5196A>C	ENSP00000420781.2:p.Arg1732Ser
ENST00000493919.6:c.1824A>C	ENSP00000418819.2:p.Arg608Ser
ENST00000494123.6:c.5274A>C	ENSP00000419103.2:p.Arg1758Ser
ENST00000497488.2:c.4386A>C	ENSP00000418986.2:p.Arg1462Ser
ENST00000618469.2:c.5274A>C	ENSP00000478114.2:p.Arg1758Ser
ENST00000634433.2:c.5151A>C	ENSP00000489431.2:p.Arg1717Ser
ENST00000644379.2:c.5340A>C	ENSP00000496570.2:p.Arg1780Ser
ENST00000644555.2:c.1824A>C	ENSP00000494614.2:p.Arg608Ser
ENST00000652672.2:c.5133A>C	ENSP00000498906.2:p.Arg1711Ser
ENST00000484087.6:c.1836A>C	ENSP00000419481.2:p.Arg612Ser
ENST00000357654.9:c.5274A>C MANE Select	ENSP00000350283.3:p.Arg1758Ser
ENST00000471181.7:c.5337A>C	ENSP00000418960.2:p.Arg1779Ser
ENST00000644379.1:c.1661A>C
ENST00000352993.7:c.1848A>C	ENSP00000312236.5:p.Arg616Ser
ENST00000357654.7:c.5274A>C	ENSP00000350283.3:p.Arg1758Ser
ENST00000461221.5:c.*5057A>C	ENSP00000418548.1:n.*5057A>C
ENST00000468300.5:c.1962A>C	ENSP00000417148.1:p.Arg654Ser
ENST00000471181.6:c.5337A>C	ENSP00000418960.2:p.Arg1779Ser
ENST00000491747.6:c.1962A>C	ENSP00000420705.2:p.Arg654Ser
ENST00000493795.5:c.5133A>C	ENSP00000418775.1:p.Arg1711Ser
ENST00000586385.5:c.204A>C	ENSP00000465818.1:p.Arg68Ser
ENST00000591534.5:c.747A>C	ENSP00000467329.1:p.Arg249Ser
ENST00000591849.5:c.-98-6865A>C	ENSP00000465347.1:n.-98-6865A>C
NM_007294.3:c.5274A>C , LRG_292t1:c.5274A>C	NP_009225.1:p.Arg1758Ser
NM_007297.3:c.5133A>C	NP_009228.2:p.Arg1711Ser
NM_007298.3:c.1962A>C	NP_009229.2:p.Arg654Ser
NM_007299.3:c.1962A>C	NP_009230.2:p.Arg654Ser
NM_007300.3:c.5337A>C	NP_009231.2:p.Arg1779Ser
NR_027676.1:n.5410A>C
NM_007294.4:c.5274A>C MANE Select	NP_009225.1:p.Arg1758Ser
NM_007297.4:c.5133A>C	NP_009228.2:p.Arg1711Ser
NM_007299.4:c.1962A>C	NP_009230.2:p.Arg654Ser
NM_007300.4:c.5337A>C	NP_009231.2:p.Arg1779Ser
NR_027676.2:n.5451A>C