Canonical Allele Identifier: CA10590312

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868596
• ClinVar RCV Id: RCV001077523
• dbSNP Id: rs587782340
• MyVariant Identifiers: chr17:g.41197789A>T (hg19) ; chr17:g.43045772A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045772A>T , CM000679.2:g.43045772A>T	GRCh38
NC_000017.10:g.41197789A>T , CM000679.1:g.41197789A>T	GRCh37
NC_000017.9:g.38451315A>T	NCBI36
NG_005905.2:g.172212T>A , LRG_292:g.172212T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5495T>A	ENSP00000417241.2:p.Val1832Glu
ENST00000470026.6:c.5498T>A	ENSP00000419274.2:p.Val1833Glu
ENST00000473961.6:c.5372T>A	ENSP00000420201.2:p.Val1791Glu
ENST00000476777.6:c.5492T>A	ENSP00000417554.2:p.Val1831Glu
ENST00000477152.6:c.5420T>A	ENSP00000419988.2:p.Val1807Glu
ENST00000478531.6:c.2186T>A	ENSP00000420412.2:p.Val729Glu
ENST00000489037.2:c.5420T>A	ENSP00000420781.2:p.Val1807Glu
ENST00000493919.6:c.2048T>A	ENSP00000418819.2:p.Val683Glu
ENST00000494123.6:c.5498T>A	ENSP00000419103.2:p.Val1833Glu
ENST00000497488.2:c.4610T>A	ENSP00000418986.2:p.Val1537Glu
ENST00000618469.2:c.5498T>A	ENSP00000478114.2:p.Val1833Glu
ENST00000634433.2:c.5375T>A	ENSP00000489431.2:p.Val1792Glu
ENST00000644379.2:c.5564T>A	ENSP00000496570.2:p.Val1855Glu
ENST00000644555.2:c.2048T>A	ENSP00000494614.2:p.Val683Glu
ENST00000652672.2:c.5357T>A	ENSP00000498906.2:p.Val1786Glu
ENST00000484087.6:c.2060T>A	ENSP00000419481.2:p.Val687Glu
ENST00000700081.1:n.1381T>A
ENST00000700082.1:n.862T>A
ENST00000357654.9:c.5498T>A MANE Select	ENSP00000350283.3:p.Val1833Glu
ENST00000471181.7:c.5561T>A	ENSP00000418960.2:p.Val1854Glu
ENST00000644379.1:c.1885T>A
ENST00000352993.7:c.2072T>A	ENSP00000312236.5:p.Val691Glu
ENST00000357654.7:c.5498T>A	ENSP00000350283.3:p.Val1833Glu
ENST00000461221.5:c.*5281T>A	ENSP00000418548.1:n.*5281T>A
ENST00000468300.5:c.*12T>A	ENSP00000417148.1:n.*12T>A
ENST00000471181.6:c.5561T>A	ENSP00000418960.2:p.Val1854Glu
ENST00000491747.6:c.2186T>A	ENSP00000420705.2:p.Val729Glu
ENST00000493795.5:c.5357T>A	ENSP00000418775.1:p.Val1786Glu
ENST00000586385.5:c.428T>A	ENSP00000465818.1:p.Val143Glu
ENST00000591534.5:c.971T>A	ENSP00000467329.1:p.Val324Glu
ENST00000591849.5:c.197T>A	ENSP00000465347.1:p.Val66Glu
NM_007294.3:c.5498T>A , LRG_292t1:c.5498T>A	NP_009225.1:p.Val1833Glu
NM_007297.3:c.5357T>A	NP_009228.2:p.Val1786Glu
NM_007298.3:c.2186T>A	NP_009229.2:p.Val729Glu
NM_007299.3:c.*12T>A	NP_009230.2:n.*12T>A
NM_007300.3:c.5561T>A	NP_009231.2:p.Val1854Glu
NR_027676.1:n.5634T>A
NM_007294.4:c.5498T>A MANE Select	NP_009225.1:p.Val1833Glu
NM_007297.4:c.5357T>A	NP_009228.2:p.Val1786Glu
NM_007299.4:c.*12T>A	NP_009230.2:n.*12T>A
NM_007300.4:c.5561T>A	NP_009231.2:p.Val1854Glu
NR_027676.2:n.5675T>A