Canonical Allele Identifier: CA10588653

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 265052
• ClinVar RCV Id: RCV000255771 ; RCV000771387 ; RCV000813828 ; RCV001073011 ; RCV001804989
• dbSNP Id: rs886039314
• gnomAD v4: 17-43051099-T-C
• MyVariant Identifiers: chr17:g.41203116T>C (hg19) ; chr17:g.43051099T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051099T>C , CM000679.2:g.43051099T>C	GRCh38
NC_000017.10:g.41203116T>C , CM000679.1:g.41203116T>C	GRCh37
NC_000017.9:g.38456642T>C	NCBI36
NG_005905.2:g.166885A>G , LRG_292:g.166885A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5293A>G	ENSP00000417241.2:p.Ile1765Val
ENST00000470026.6:c.5296A>G	ENSP00000419274.2:p.Ile1766Val
ENST00000473961.6:c.5170A>G	ENSP00000420201.2:p.Ile1724Val
ENST00000476777.6:c.5290A>G	ENSP00000417554.2:p.Ile1764Val
ENST00000477152.6:c.5218A>G	ENSP00000419988.2:p.Ile1740Val
ENST00000478531.6:c.1984A>G	ENSP00000420412.2:p.Ile662Val
ENST00000489037.2:c.5218A>G	ENSP00000420781.2:p.Ile1740Val
ENST00000493919.6:c.1846A>G	ENSP00000418819.2:p.Ile616Val
ENST00000494123.6:c.5296A>G	ENSP00000419103.2:p.Ile1766Val
ENST00000497488.2:c.4408A>G	ENSP00000418986.2:p.Ile1470Val
ENST00000618469.2:c.5296A>G	ENSP00000478114.2:p.Ile1766Val
ENST00000634433.2:c.5173A>G	ENSP00000489431.2:p.Ile1725Val
ENST00000644379.2:c.5362A>G	ENSP00000496570.2:p.Ile1788Val
ENST00000644555.2:c.1846A>G	ENSP00000494614.2:p.Ile616Val
ENST00000652672.2:c.5155A>G	ENSP00000498906.2:p.Ile1719Val
ENST00000484087.6:c.1858A>G	ENSP00000419481.2:p.Ile620Val
ENST00000357654.9:c.5296A>G MANE Select	ENSP00000350283.3:p.Ile1766Val
ENST00000471181.7:c.5359A>G	ENSP00000418960.2:p.Ile1787Val
ENST00000644379.1:c.1683A>G
ENST00000352993.7:c.1870A>G	ENSP00000312236.5:p.Ile624Val
ENST00000357654.7:c.5296A>G	ENSP00000350283.3:p.Ile1766Val
ENST00000461221.5:c.*5079A>G	ENSP00000418548.1:n.*5079A>G
ENST00000468300.5:c.1984A>G	ENSP00000417148.1:p.Ile662Val
ENST00000471181.6:c.5359A>G	ENSP00000418960.2:p.Ile1787Val
ENST00000491747.6:c.1984A>G	ENSP00000420705.2:p.Ile662Val
ENST00000493795.5:c.5155A>G	ENSP00000418775.1:p.Ile1719Val
ENST00000586385.5:c.226A>G	ENSP00000465818.1:p.Ile76Val
ENST00000591534.5:c.769A>G	ENSP00000467329.1:p.Ile257Val
ENST00000591849.5:c.-98-909A>G	ENSP00000465347.1:n.-98-909A>G
NM_007294.3:c.5296A>G , LRG_292t1:c.5296A>G	NP_009225.1:p.Ile1766Val
NM_007297.3:c.5155A>G	NP_009228.2:p.Ile1719Val
NM_007298.3:c.1984A>G	NP_009229.2:p.Ile662Val
NM_007299.3:c.1984A>G	NP_009230.2:p.Ile662Val
NM_007300.3:c.5359A>G	NP_009231.2:p.Ile1787Val
NR_027676.1:n.5432A>G
NM_007294.4:c.5296A>G MANE Select	NP_009225.1:p.Ile1766Val
NM_007297.4:c.5155A>G	NP_009228.2:p.Ile1719Val
NM_007299.4:c.1984A>G	NP_009230.2:p.Ile662Val
NM_007300.4:c.5359A>G	NP_009231.2:p.Ile1787Val
NR_027676.2:n.5473A>G