Canonical Allele Identifier: CA10590319

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1171791
• ClinVar RCV Id: RCV001525184 ; RCV001872070
• dbSNP Id: rs2050882095
• MyVariant Identifiers: chr17:g.41197793C>T (hg19) ; chr17:g.43045776C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045776C>T , CM000679.2:g.43045776C>T	GRCh38
NC_000017.10:g.41197793C>T , CM000679.1:g.41197793C>T	GRCh37
NC_000017.9:g.38451319C>T	NCBI36
NG_005905.2:g.172208G>A , LRG_292:g.172208G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5491G>A	ENSP00000417241.2:p.Val1831Met
ENST00000470026.6:c.5494G>A	ENSP00000419274.2:p.Val1832Met
ENST00000473961.6:c.5368G>A	ENSP00000420201.2:p.Val1790Met
ENST00000476777.6:c.5488G>A	ENSP00000417554.2:p.Val1830Met
ENST00000477152.6:c.5416G>A	ENSP00000419988.2:p.Val1806Met
ENST00000478531.6:c.2182G>A	ENSP00000420412.2:p.Val728Met
ENST00000489037.2:c.5416G>A	ENSP00000420781.2:p.Val1806Met
ENST00000493919.6:c.2044G>A	ENSP00000418819.2:p.Val682Met
ENST00000494123.6:c.5494G>A	ENSP00000419103.2:p.Val1832Met
ENST00000497488.2:c.4606G>A	ENSP00000418986.2:p.Val1536Met
ENST00000618469.2:c.5494G>A	ENSP00000478114.2:p.Val1832Met
ENST00000634433.2:c.5371G>A	ENSP00000489431.2:p.Val1791Met
ENST00000644379.2:c.5560G>A	ENSP00000496570.2:p.Val1854Met
ENST00000644555.2:c.2044G>A	ENSP00000494614.2:p.Val682Met
ENST00000652672.2:c.5353G>A	ENSP00000498906.2:p.Val1785Met
ENST00000484087.6:c.2056G>A	ENSP00000419481.2:p.Val686Met
ENST00000700081.1:n.1377G>A
ENST00000700082.1:n.858G>A
ENST00000357654.9:c.5494G>A MANE Select	ENSP00000350283.3:p.Val1832Met
ENST00000471181.7:c.5557G>A	ENSP00000418960.2:p.Val1853Met
ENST00000644379.1:c.1881G>A
ENST00000352993.7:c.2068G>A	ENSP00000312236.5:p.Val690Met
ENST00000357654.7:c.5494G>A	ENSP00000350283.3:p.Val1832Met
ENST00000461221.5:c.*5277G>A	ENSP00000418548.1:n.*5277G>A
ENST00000468300.5:c.*8G>A	ENSP00000417148.1:n.*8G>A
ENST00000471181.6:c.5557G>A	ENSP00000418960.2:p.Val1853Met
ENST00000491747.6:c.2182G>A	ENSP00000420705.2:p.Val728Met
ENST00000493795.5:c.5353G>A	ENSP00000418775.1:p.Val1785Met
ENST00000586385.5:c.424G>A	ENSP00000465818.1:p.Val142Met
ENST00000591534.5:c.967G>A	ENSP00000467329.1:p.Val323Met
ENST00000591849.5:c.193G>A	ENSP00000465347.1:p.Val65Met
NM_007294.3:c.5494G>A , LRG_292t1:c.5494G>A	NP_009225.1:p.Val1832Met
NM_007297.3:c.5353G>A	NP_009228.2:p.Val1785Met
NM_007298.3:c.2182G>A	NP_009229.2:p.Val728Met
NM_007299.3:c.*8G>A	NP_009230.2:n.*8G>A
NM_007300.3:c.5557G>A	NP_009231.2:p.Val1853Met
NR_027676.1:n.5630G>A
NM_007294.4:c.5494G>A MANE Select	NP_009225.1:p.Val1832Met
NM_007297.4:c.5353G>A	NP_009228.2:p.Val1785Met
NM_007299.4:c.*8G>A	NP_009230.2:n.*8G>A
NM_007300.4:c.5557G>A	NP_009231.2:p.Val1853Met
NR_027676.2:n.5671G>A