Canonical Allele Identifier: CA003670

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 142256
• ClinVar RCV Id: RCV000131269 ; RCV001849940 ; RCV001077524
• dbSNP Id: rs587782340
• MyVariant Identifiers: chr17:g.41197789A>G (hg19) ; chr17:g.43045772A>G (hg38)
• PubMed: PMID:10811118 ; PMID:23536787

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5495T>C	ENSP00000417241.2:p.Val1832Ala
ENST00000470026.6:c.5498T>C	ENSP00000419274.2:p.Val1833Ala
ENST00000473961.6:c.5372T>C	ENSP00000420201.2:p.Val1791Ala
ENST00000476777.6:c.5492T>C	ENSP00000417554.2:p.Val1831Ala
ENST00000477152.6:c.5420T>C	ENSP00000419988.2:p.Val1807Ala
ENST00000478531.6:c.2186T>C	ENSP00000420412.2:p.Val729Ala
ENST00000489037.2:c.5420T>C	ENSP00000420781.2:p.Val1807Ala
ENST00000493919.6:c.2048T>C	ENSP00000418819.2:p.Val683Ala
ENST00000494123.6:c.5498T>C	ENSP00000419103.2:p.Val1833Ala
ENST00000497488.2:c.4610T>C	ENSP00000418986.2:p.Val1537Ala
ENST00000618469.2:c.5498T>C	ENSP00000478114.2:p.Val1833Ala
ENST00000634433.2:c.5375T>C	ENSP00000489431.2:p.Val1792Ala
ENST00000644379.2:c.5564T>C	ENSP00000496570.2:p.Val1855Ala
ENST00000644555.2:c.2048T>C	ENSP00000494614.2:p.Val683Ala
ENST00000652672.2:c.5357T>C	ENSP00000498906.2:p.Val1786Ala
ENST00000484087.6:c.2060T>C	ENSP00000419481.2:p.Val687Ala
ENST00000700081.1:n.1381T>C
ENST00000700082.1:n.862T>C
ENST00000357654.9:c.5498T>C MANE Select	ENSP00000350283.3:p.Val1833Ala
ENST00000471181.7:c.5561T>C	ENSP00000418960.2:p.Val1854Ala
ENST00000644379.1:c.1885T>C
ENST00000352993.7:c.2072T>C	ENSP00000312236.5:p.Val691Ala
ENST00000357654.7:c.5498T>C	ENSP00000350283.3:p.Val1833Ala
ENST00000461221.5:c.*5281T>C	ENSP00000418548.1:n.*5281T>C
ENST00000468300.5:c.*12T>C	ENSP00000417148.1:n.*12T>C
ENST00000471181.6:c.5561T>C	ENSP00000418960.2:p.Val1854Ala
ENST00000491747.6:c.2186T>C	ENSP00000420705.2:p.Val729Ala
ENST00000493795.5:c.5357T>C	ENSP00000418775.1:p.Val1786Ala
ENST00000586385.5:c.428T>C	ENSP00000465818.1:p.Val143Ala
ENST00000591534.5:c.971T>C	ENSP00000467329.1:p.Val324Ala
ENST00000591849.5:c.197T>C	ENSP00000465347.1:p.Val66Ala
NM_007294.3:c.5498T>C , LRG_292t1:c.5498T>C	NP_009225.1:p.Val1833Ala
NM_007297.3:c.5357T>C	NP_009228.2:p.Val1786Ala
NM_007298.3:c.2186T>C	NP_009229.2:p.Val729Ala
NM_007299.3:c.*12T>C	NP_009230.2:n.*12T>C
NM_007300.3:c.5561T>C	NP_009231.2:p.Val1854Ala
NR_027676.1:n.5634T>C
NM_007294.4:c.5498T>C MANE Select	NP_009225.1:p.Val1833Ala
NM_007297.4:c.5357T>C	NP_009228.2:p.Val1786Ala
NM_007299.4:c.*12T>C	NP_009230.2:n.*12T>C
NM_007300.4:c.5561T>C	NP_009231.2:p.Val1854Ala
NR_027676.2:n.5675T>C