Canonical Allele Identifier: CA10590245

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867636
• ClinVar RCV Id: RCV001076372
• dbSNP Id: rs2050866725
• MyVariant Identifiers: chr17:g.41197748A>G (hg19) ; chr17:g.43045731A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045731A>G , CM000679.2:g.43045731A>G	GRCh38
NC_000017.10:g.41197748A>G , CM000679.1:g.41197748A>G	GRCh37
NC_000017.9:g.38451274A>G	NCBI36
NG_005905.2:g.172253T>C , LRG_292:g.172253T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5536T>C	ENSP00000417241.2:p.Cys1846Arg
ENST00000470026.6:c.5539T>C	ENSP00000419274.2:p.Cys1847Arg
ENST00000473961.6:c.5413T>C	ENSP00000420201.2:p.Cys1805Arg
ENST00000476777.6:c.5533T>C	ENSP00000417554.2:p.Cys1845Arg
ENST00000477152.6:c.5461T>C	ENSP00000419988.2:p.Cys1821Arg
ENST00000478531.6:c.2227T>C	ENSP00000420412.2:p.Cys743Arg
ENST00000489037.2:c.5461T>C	ENSP00000420781.2:p.Cys1821Arg
ENST00000493919.6:c.2089T>C	ENSP00000418819.2:p.Cys697Arg
ENST00000494123.6:c.5539T>C	ENSP00000419103.2:p.Cys1847Arg
ENST00000497488.2:c.4651T>C	ENSP00000418986.2:p.Cys1551Arg
ENST00000618469.2:c.5539T>C	ENSP00000478114.2:p.Cys1847Arg
ENST00000634433.2:c.5416T>C	ENSP00000489431.2:p.Cys1806Arg
ENST00000644379.2:c.5605T>C	ENSP00000496570.2:p.Cys1869Arg
ENST00000644555.2:c.2089T>C	ENSP00000494614.2:p.Cys697Arg
ENST00000652672.2:c.5398T>C	ENSP00000498906.2:p.Cys1800Arg
ENST00000484087.6:c.2101T>C	ENSP00000419481.2:p.Cys701Arg
ENST00000700081.1:n.1422T>C
ENST00000700082.1:n.903T>C
ENST00000357654.9:c.5539T>C MANE Select	ENSP00000350283.3:p.Cys1847Arg
ENST00000471181.7:c.5602T>C	ENSP00000418960.2:p.Cys1868Arg
ENST00000644379.1:c.1926T>C
ENST00000352993.7:c.2113T>C	ENSP00000312236.5:p.Cys705Arg
ENST00000357654.7:c.5539T>C	ENSP00000350283.3:p.Cys1847Arg
ENST00000461221.5:c.*5322T>C	ENSP00000418548.1:n.*5322T>C
ENST00000468300.5:c.*53T>C	ENSP00000417148.1:n.*53T>C
ENST00000471181.6:c.5602T>C	ENSP00000418960.2:p.Cys1868Arg
ENST00000491747.6:c.2227T>C	ENSP00000420705.2:p.Cys743Arg
ENST00000493795.5:c.5398T>C	ENSP00000418775.1:p.Cys1800Arg
ENST00000586385.5:c.469T>C	ENSP00000465818.1:p.Cys157Arg
ENST00000591534.5:c.1012T>C	ENSP00000467329.1:p.Cys338Arg
ENST00000591849.5:c.238T>C	ENSP00000465347.1:p.Cys80Arg
NM_007294.3:c.5539T>C , LRG_292t1:c.5539T>C	NP_009225.1:p.Cys1847Arg
NM_007297.3:c.5398T>C	NP_009228.2:p.Cys1800Arg
NM_007298.3:c.2227T>C	NP_009229.2:p.Cys743Arg
NM_007299.3:c.*53T>C	NP_009230.2:n.*53T>C
NM_007300.3:c.5602T>C	NP_009231.2:p.Cys1868Arg
NR_027676.1:n.5675T>C
NM_007294.4:c.5539T>C MANE Select	NP_009225.1:p.Cys1847Arg
NM_007297.4:c.5398T>C	NP_009228.2:p.Cys1800Arg
NM_007299.4:c.*53T>C	NP_009230.2:n.*53T>C
NM_007300.4:c.5602T>C	NP_009231.2:p.Cys1868Arg
NR_027676.2:n.5716T>C