Canonical Allele Identifier: CA10590314

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868595
• ClinVar RCV Id: RCV001077522
• dbSNP Id: rs80357268
• MyVariant Identifiers: chr17:g.41197790C>G (hg19) ; chr17:g.43045773C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045773C>G , CM000679.2:g.43045773C>G	GRCh38
NC_000017.10:g.41197790C>G , CM000679.1:g.41197790C>G	GRCh37
NC_000017.9:g.38451316C>G	NCBI36
NG_005905.2:g.172211G>C , LRG_292:g.172211G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5494G>C	ENSP00000417241.2:p.Val1832Leu
ENST00000470026.6:c.5497G>C	ENSP00000419274.2:p.Val1833Leu
ENST00000473961.6:c.5371G>C	ENSP00000420201.2:p.Val1791Leu
ENST00000476777.6:c.5491G>C	ENSP00000417554.2:p.Val1831Leu
ENST00000477152.6:c.5419G>C	ENSP00000419988.2:p.Val1807Leu
ENST00000478531.6:c.2185G>C	ENSP00000420412.2:p.Val729Leu
ENST00000489037.2:c.5419G>C	ENSP00000420781.2:p.Val1807Leu
ENST00000493919.6:c.2047G>C	ENSP00000418819.2:p.Val683Leu
ENST00000494123.6:c.5497G>C	ENSP00000419103.2:p.Val1833Leu
ENST00000497488.2:c.4609G>C	ENSP00000418986.2:p.Val1537Leu
ENST00000618469.2:c.5497G>C	ENSP00000478114.2:p.Val1833Leu
ENST00000634433.2:c.5374G>C	ENSP00000489431.2:p.Val1792Leu
ENST00000644379.2:c.5563G>C	ENSP00000496570.2:p.Val1855Leu
ENST00000644555.2:c.2047G>C	ENSP00000494614.2:p.Val683Leu
ENST00000652672.2:c.5356G>C	ENSP00000498906.2:p.Val1786Leu
ENST00000484087.6:c.2059G>C	ENSP00000419481.2:p.Val687Leu
ENST00000700081.1:n.1380G>C
ENST00000700082.1:n.861G>C
ENST00000357654.9:c.5497G>C MANE Select	ENSP00000350283.3:p.Val1833Leu
ENST00000471181.7:c.5560G>C	ENSP00000418960.2:p.Val1854Leu
ENST00000644379.1:c.1884G>C
ENST00000352993.7:c.2071G>C	ENSP00000312236.5:p.Val691Leu
ENST00000357654.7:c.5497G>C	ENSP00000350283.3:p.Val1833Leu
ENST00000461221.5:c.*5280G>C	ENSP00000418548.1:n.*5280G>C
ENST00000468300.5:c.*11G>C	ENSP00000417148.1:n.*11G>C
ENST00000471181.6:c.5560G>C	ENSP00000418960.2:p.Val1854Leu
ENST00000491747.6:c.2185G>C	ENSP00000420705.2:p.Val729Leu
ENST00000493795.5:c.5356G>C	ENSP00000418775.1:p.Val1786Leu
ENST00000586385.5:c.427G>C	ENSP00000465818.1:p.Val143Leu
ENST00000591534.5:c.970G>C	ENSP00000467329.1:p.Val324Leu
ENST00000591849.5:c.196G>C	ENSP00000465347.1:p.Val66Leu
NM_007294.3:c.5497G>C , LRG_292t1:c.5497G>C	NP_009225.1:p.Val1833Leu
NM_007297.3:c.5356G>C	NP_009228.2:p.Val1786Leu
NM_007298.3:c.2185G>C	NP_009229.2:p.Val729Leu
NM_007299.3:c.*11G>C	NP_009230.2:n.*11G>C
NM_007300.3:c.5560G>C	NP_009231.2:p.Val1854Leu
NR_027676.1:n.5633G>C
NM_007294.4:c.5497G>C MANE Select	NP_009225.1:p.Val1833Leu
NM_007297.4:c.5356G>C	NP_009228.2:p.Val1786Leu
NM_007299.4:c.*11G>C	NP_009230.2:n.*11G>C
NM_007300.4:c.5560G>C	NP_009231.2:p.Val1854Leu
NR_027676.2:n.5674G>C