Canonical Allele Identifier: CA10590182

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2693360
• ClinVar RCV Id: RCV003530339
• dbSNP Id: rs765656957
• MyVariant Identifiers: chr17:g.41197715T>C (hg19) ; chr17:g.43045698T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045698T>C , CM000679.2:g.43045698T>C	GRCh38
NC_000017.10:g.41197715T>C , CM000679.1:g.41197715T>C	GRCh37
NC_000017.9:g.38451241T>C	NCBI36
NG_005905.2:g.172286A>G , LRG_292:g.172286A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5569A>G	ENSP00000417241.2:p.Ile1857Val
ENST00000470026.6:c.5572A>G	ENSP00000419274.2:p.Ile1858Val
ENST00000473961.6:c.5446A>G	ENSP00000420201.2:p.Ile1816Val
ENST00000476777.6:c.5566A>G	ENSP00000417554.2:p.Ile1856Val
ENST00000477152.6:c.5494A>G	ENSP00000419988.2:p.Ile1832Val
ENST00000478531.6:c.2260A>G	ENSP00000420412.2:p.Ile754Val
ENST00000489037.2:c.5494A>G	ENSP00000420781.2:p.Ile1832Val
ENST00000493919.6:c.2122A>G	ENSP00000418819.2:p.Ile708Val
ENST00000494123.6:c.5572A>G	ENSP00000419103.2:p.Ile1858Val
ENST00000497488.2:c.4684A>G	ENSP00000418986.2:p.Ile1562Val
ENST00000618469.2:c.5572A>G	ENSP00000478114.2:p.Ile1858Val
ENST00000634433.2:c.5449A>G	ENSP00000489431.2:p.Ile1817Val
ENST00000644379.2:c.5638A>G	ENSP00000496570.2:p.Ile1880Val
ENST00000644555.2:c.2122A>G	ENSP00000494614.2:p.Ile708Val
ENST00000652672.2:c.5431A>G	ENSP00000498906.2:p.Ile1811Val
ENST00000484087.6:c.2134A>G	ENSP00000419481.2:p.Ile712Val
ENST00000700081.1:n.1455A>G
ENST00000700082.1:n.936A>G
ENST00000357654.9:c.5572A>G MANE Select	ENSP00000350283.3:p.Ile1858Val
ENST00000471181.7:c.5635A>G	ENSP00000418960.2:p.Ile1879Val
ENST00000644379.1:c.1959A>G
ENST00000352993.7:c.2146A>G	ENSP00000312236.5:p.Ile716Val
ENST00000357654.7:c.5572A>G	ENSP00000350283.3:p.Ile1858Val
ENST00000461221.5:c.*5355A>G	ENSP00000418548.1:n.*5355A>G
ENST00000468300.5:c.*86A>G	ENSP00000417148.1:n.*86A>G
ENST00000471181.6:c.5635A>G	ENSP00000418960.2:p.Ile1879Val
ENST00000491747.6:c.2260A>G	ENSP00000420705.2:p.Ile754Val
ENST00000493795.5:c.5431A>G	ENSP00000418775.1:p.Ile1811Val
ENST00000586385.5:c.502A>G	ENSP00000465818.1:p.Ile168Val
ENST00000591534.5:c.1045A>G	ENSP00000467329.1:p.Ile349Val
ENST00000591849.5:c.271A>G	ENSP00000465347.1:p.Ile91Val
NM_007294.3:c.5572A>G , LRG_292t1:c.5572A>G	NP_009225.1:p.Ile1858Val
NM_007297.3:c.5431A>G	NP_009228.2:p.Ile1811Val
NM_007298.3:c.2260A>G	NP_009229.2:p.Ile754Val
NM_007299.3:c.*86A>G	NP_009230.2:n.*86A>G
NM_007300.3:c.5635A>G	NP_009231.2:p.Ile1879Val
NR_027676.1:n.5708A>G
NM_007294.4:c.5572A>G MANE Select	NP_009225.1:p.Ile1858Val
NM_007297.4:c.5431A>G	NP_009228.2:p.Ile1811Val
NM_007299.4:c.*86A>G	NP_009230.2:n.*86A>G
NM_007300.4:c.5635A>G	NP_009231.2:p.Ile1879Val
NR_027676.2:n.5749A>G