Canonical Allele Identifier: CA10590199

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868677
• ClinVar RCV Id: RCV001077620 ; RCV003645191
• dbSNP Id: rs2050858402
• MyVariant Identifiers: chr17:g.41197724T>C (hg19) ; chr17:g.43045707T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045707T>C , CM000679.2:g.43045707T>C	GRCh38
NC_000017.10:g.41197724T>C , CM000679.1:g.41197724T>C	GRCh37
NC_000017.9:g.38451250T>C	NCBI36
NG_005905.2:g.172277A>G , LRG_292:g.172277A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5560A>G	ENSP00000417241.2:p.Ile1854Val
ENST00000470026.6:c.5563A>G	ENSP00000419274.2:p.Ile1855Val
ENST00000473961.6:c.5437A>G	ENSP00000420201.2:p.Ile1813Val
ENST00000476777.6:c.5557A>G	ENSP00000417554.2:p.Ile1853Val
ENST00000477152.6:c.5485A>G	ENSP00000419988.2:p.Ile1829Val
ENST00000478531.6:c.2251A>G	ENSP00000420412.2:p.Ile751Val
ENST00000489037.2:c.5485A>G	ENSP00000420781.2:p.Ile1829Val
ENST00000493919.6:c.2113A>G	ENSP00000418819.2:p.Ile705Val
ENST00000494123.6:c.5563A>G	ENSP00000419103.2:p.Ile1855Val
ENST00000497488.2:c.4675A>G	ENSP00000418986.2:p.Ile1559Val
ENST00000618469.2:c.5563A>G	ENSP00000478114.2:p.Ile1855Val
ENST00000634433.2:c.5440A>G	ENSP00000489431.2:p.Ile1814Val
ENST00000644379.2:c.5629A>G	ENSP00000496570.2:p.Ile1877Val
ENST00000644555.2:c.2113A>G	ENSP00000494614.2:p.Ile705Val
ENST00000652672.2:c.5422A>G	ENSP00000498906.2:p.Ile1808Val
ENST00000484087.6:c.2125A>G	ENSP00000419481.2:p.Ile709Val
ENST00000700081.1:n.1446A>G
ENST00000700082.1:n.927A>G
ENST00000357654.9:c.5563A>G MANE Select	ENSP00000350283.3:p.Ile1855Val
ENST00000471181.7:c.5626A>G	ENSP00000418960.2:p.Ile1876Val
ENST00000644379.1:c.1950A>G
ENST00000352993.7:c.2137A>G	ENSP00000312236.5:p.Ile713Val
ENST00000357654.7:c.5563A>G	ENSP00000350283.3:p.Ile1855Val
ENST00000461221.5:c.*5346A>G	ENSP00000418548.1:n.*5346A>G
ENST00000468300.5:c.*77A>G	ENSP00000417148.1:n.*77A>G
ENST00000471181.6:c.5626A>G	ENSP00000418960.2:p.Ile1876Val
ENST00000491747.6:c.2251A>G	ENSP00000420705.2:p.Ile751Val
ENST00000493795.5:c.5422A>G	ENSP00000418775.1:p.Ile1808Val
ENST00000586385.5:c.493A>G	ENSP00000465818.1:p.Ile165Val
ENST00000591534.5:c.1036A>G	ENSP00000467329.1:p.Ile346Val
ENST00000591849.5:c.262A>G	ENSP00000465347.1:p.Ile88Val
NM_007294.3:c.5563A>G , LRG_292t1:c.5563A>G	NP_009225.1:p.Ile1855Val
NM_007297.3:c.5422A>G	NP_009228.2:p.Ile1808Val
NM_007298.3:c.2251A>G	NP_009229.2:p.Ile751Val
NM_007299.3:c.*77A>G	NP_009230.2:n.*77A>G
NM_007300.3:c.5626A>G	NP_009231.2:p.Ile1876Val
NR_027676.1:n.5699A>G
NM_007294.4:c.5563A>G MANE Select	NP_009225.1:p.Ile1855Val
NM_007297.4:c.5422A>G	NP_009228.2:p.Ile1808Val
NM_007299.4:c.*77A>G	NP_009230.2:n.*77A>G
NM_007300.4:c.5626A>G	NP_009231.2:p.Ile1876Val
NR_027676.2:n.5740A>G