Canonical Allele Identifier: CA10590762

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865647
• ClinVar RCV Id: RCV001073107
• dbSNP Id: rs1060502328
• MyVariant Identifiers: chr17:g.41201194C>G (hg19) ; chr17:g.43049177C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049177C>G , CM000679.2:g.43049177C>G	GRCh38
NC_000017.10:g.41201194C>G , CM000679.1:g.41201194C>G	GRCh37
NC_000017.9:g.38454720C>G	NCBI36
NG_005905.2:g.168807G>C , LRG_292:g.168807G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5347G>C	ENSP00000417241.2:p.Val1783Leu
ENST00000470026.6:c.5350G>C	ENSP00000419274.2:p.Val1784Leu
ENST00000473961.6:c.5224G>C	ENSP00000420201.2:p.Val1742Leu
ENST00000476777.6:c.5344G>C	ENSP00000417554.2:p.Val1782Leu
ENST00000477152.6:c.5272G>C	ENSP00000419988.2:p.Val1758Leu
ENST00000478531.6:c.2038G>C	ENSP00000420412.2:p.Val680Leu
ENST00000489037.2:c.5272G>C	ENSP00000420781.2:p.Val1758Leu
ENST00000493919.6:c.1900G>C	ENSP00000418819.2:p.Val634Leu
ENST00000494123.6:c.5350G>C	ENSP00000419103.2:p.Val1784Leu
ENST00000497488.2:c.4462G>C	ENSP00000418986.2:p.Val1488Leu
ENST00000618469.2:c.5350G>C	ENSP00000478114.2:p.Val1784Leu
ENST00000634433.2:c.5227G>C	ENSP00000489431.2:p.Val1743Leu
ENST00000644379.2:c.5416G>C	ENSP00000496570.2:p.Val1806Leu
ENST00000644555.2:c.1900G>C	ENSP00000494614.2:p.Val634Leu
ENST00000652672.2:c.5209G>C	ENSP00000498906.2:p.Val1737Leu
ENST00000484087.6:c.1912G>C	ENSP00000419481.2:p.Val638Leu
ENST00000700081.1:n.1233G>C
ENST00000357654.9:c.5350G>C MANE Select	ENSP00000350283.3:p.Val1784Leu
ENST00000471181.7:c.5413G>C	ENSP00000418960.2:p.Val1805Leu
ENST00000644379.1:c.1737G>C
ENST00000352993.7:c.1924G>C	ENSP00000312236.5:p.Val642Leu
ENST00000357654.7:c.5350G>C	ENSP00000350283.3:p.Val1784Leu
ENST00000461221.5:c.*5133G>C	ENSP00000418548.1:n.*5133G>C
ENST00000468300.5:c.2021-1474G>C	ENSP00000417148.1:n.2021-1474G>C
ENST00000471181.6:c.5413G>C	ENSP00000418960.2:p.Val1805Leu
ENST00000491747.6:c.2038G>C	ENSP00000420705.2:p.Val680Leu
ENST00000493795.5:c.5209G>C	ENSP00000418775.1:p.Val1737Leu
ENST00000586385.5:c.280G>C	ENSP00000465818.1:p.Val94Leu
ENST00000591534.5:c.823G>C	ENSP00000467329.1:p.Val275Leu
ENST00000591849.5:c.49G>C	ENSP00000465347.1:p.Val17Leu
NM_007294.3:c.5350G>C , LRG_292t1:c.5350G>C	NP_009225.1:p.Val1784Leu
NM_007297.3:c.5209G>C	NP_009228.2:p.Val1737Leu
NM_007298.3:c.2038G>C	NP_009229.2:p.Val680Leu
NM_007299.3:c.2021-1474G>C	NP_009230.2:n.2021-1474G>C
NM_007300.3:c.5413G>C	NP_009231.2:p.Val1805Leu
NR_027676.1:n.5486G>C
NM_007294.4:c.5350G>C MANE Select	NP_009225.1:p.Val1784Leu
NM_007297.4:c.5209G>C	NP_009228.2:p.Val1737Leu
NM_007299.4:c.2021-1474G>C	NP_009230.2:n.2021-1474G>C
NM_007300.4:c.5413G>C	NP_009231.2:p.Val1805Leu
NR_027676.2:n.5527G>C