Canonical Allele Identifier: CA10591006

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867915
• ClinVar RCV Id: RCV001076707
• dbSNP Id: rs2051497373
• MyVariant Identifiers: chr17:g.41209073C>A (hg19) ; chr17:g.43057056C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057056C>A , CM000679.2:g.43057056C>A	GRCh38
NC_000017.10:g.41209073C>A , CM000679.1:g.41209073C>A	GRCh37
NC_000017.9:g.38462599C>A	NCBI36
NG_005905.2:g.160928G>T , LRG_292:g.160928G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5270G>T	ENSP00000417241.2:p.Arg1757Ile
ENST00000470026.6:c.5273G>T	ENSP00000419274.2:p.Arg1758Ile
ENST00000473961.6:c.5147G>T	ENSP00000420201.2:p.Arg1716Ile
ENST00000476777.6:c.5267G>T	ENSP00000417554.2:p.Arg1756Ile
ENST00000477152.6:c.5195G>T	ENSP00000419988.2:p.Arg1732Ile
ENST00000478531.6:c.1961G>T	ENSP00000420412.2:p.Arg654Ile
ENST00000489037.2:c.5195G>T	ENSP00000420781.2:p.Arg1732Ile
ENST00000493919.6:c.1823G>T	ENSP00000418819.2:p.Arg608Ile
ENST00000494123.6:c.5273G>T	ENSP00000419103.2:p.Arg1758Ile
ENST00000497488.2:c.4385G>T	ENSP00000418986.2:p.Arg1462Ile
ENST00000618469.2:c.5273G>T	ENSP00000478114.2:p.Arg1758Ile
ENST00000634433.2:c.5150G>T	ENSP00000489431.2:p.Arg1717Ile
ENST00000644379.2:c.5339G>T	ENSP00000496570.2:p.Arg1780Ile
ENST00000644555.2:c.1823G>T	ENSP00000494614.2:p.Arg608Ile
ENST00000652672.2:c.5132G>T	ENSP00000498906.2:p.Arg1711Ile
ENST00000484087.6:c.1835G>T	ENSP00000419481.2:p.Arg612Ile
ENST00000357654.9:c.5273G>T MANE Select	ENSP00000350283.3:p.Arg1758Ile
ENST00000471181.7:c.5336G>T	ENSP00000418960.2:p.Arg1779Ile
ENST00000644379.1:c.1660G>T
ENST00000352993.7:c.1847G>T	ENSP00000312236.5:p.Arg616Ile
ENST00000357654.7:c.5273G>T	ENSP00000350283.3:p.Arg1758Ile
ENST00000461221.5:c.*5056G>T	ENSP00000418548.1:n.*5056G>T
ENST00000468300.5:c.1961G>T	ENSP00000417148.1:p.Arg654Ile
ENST00000471181.6:c.5336G>T	ENSP00000418960.2:p.Arg1779Ile
ENST00000491747.6:c.1961G>T	ENSP00000420705.2:p.Arg654Ile
ENST00000493795.5:c.5132G>T	ENSP00000418775.1:p.Arg1711Ile
ENST00000586385.5:c.203G>T	ENSP00000465818.1:p.Arg68Ile
ENST00000591534.5:c.746G>T	ENSP00000467329.1:p.Arg249Ile
ENST00000591849.5:c.-98-6866G>T	ENSP00000465347.1:n.-98-6866G>T
NM_007294.3:c.5273G>T , LRG_292t1:c.5273G>T	NP_009225.1:p.Arg1758Ile
NM_007297.3:c.5132G>T	NP_009228.2:p.Arg1711Ile
NM_007298.3:c.1961G>T	NP_009229.2:p.Arg654Ile
NM_007299.3:c.1961G>T	NP_009230.2:p.Arg654Ile
NM_007300.3:c.5336G>T	NP_009231.2:p.Arg1779Ile
NR_027676.1:n.5409G>T
NM_007294.4:c.5273G>T MANE Select	NP_009225.1:p.Arg1758Ile
NM_007297.4:c.5132G>T	NP_009228.2:p.Arg1711Ile
NM_007299.4:c.1961G>T	NP_009230.2:p.Arg654Ile
NM_007300.4:c.5336G>T	NP_009231.2:p.Arg1779Ile
NR_027676.2:n.5450G>T