Canonical Allele Identifier: CA10590771

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865368
• ClinVar RCV Id: RCV001072767 ; RCV001862482
• dbSNP Id: rs80357284
• MyVariant Identifiers: chr17:g.41201198C>G (hg19) ; chr17:g.43049181C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049181C>G , CM000679.2:g.43049181C>G	GRCh38
NC_000017.10:g.41201198C>G , CM000679.1:g.41201198C>G	GRCh37
NC_000017.9:g.38454724C>G	NCBI36
NG_005905.2:g.168803G>C , LRG_292:g.168803G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5343G>C	ENSP00000417241.2:p.Trp1781Cys
ENST00000470026.6:c.5346G>C	ENSP00000419274.2:p.Trp1782Cys
ENST00000473961.6:c.5220G>C	ENSP00000420201.2:p.Trp1740Cys
ENST00000476777.6:c.5340G>C	ENSP00000417554.2:p.Trp1780Cys
ENST00000477152.6:c.5268G>C	ENSP00000419988.2:p.Trp1756Cys
ENST00000478531.6:c.2034G>C	ENSP00000420412.2:p.Trp678Cys
ENST00000489037.2:c.5268G>C	ENSP00000420781.2:p.Trp1756Cys
ENST00000493919.6:c.1896G>C	ENSP00000418819.2:p.Trp632Cys
ENST00000494123.6:c.5346G>C	ENSP00000419103.2:p.Trp1782Cys
ENST00000497488.2:c.4458G>C	ENSP00000418986.2:p.Trp1486Cys
ENST00000618469.2:c.5346G>C	ENSP00000478114.2:p.Trp1782Cys
ENST00000634433.2:c.5223G>C	ENSP00000489431.2:p.Trp1741Cys
ENST00000644379.2:c.5412G>C	ENSP00000496570.2:p.Trp1804Cys
ENST00000644555.2:c.1896G>C	ENSP00000494614.2:p.Trp632Cys
ENST00000652672.2:c.5205G>C	ENSP00000498906.2:p.Trp1735Cys
ENST00000484087.6:c.1908G>C	ENSP00000419481.2:p.Trp636Cys
ENST00000700081.1:n.1229G>C
ENST00000357654.9:c.5346G>C MANE Select	ENSP00000350283.3:p.Trp1782Cys
ENST00000471181.7:c.5409G>C	ENSP00000418960.2:p.Trp1803Cys
ENST00000644379.1:c.1733G>C
ENST00000352993.7:c.1920G>C	ENSP00000312236.5:p.Trp640Cys
ENST00000357654.7:c.5346G>C	ENSP00000350283.3:p.Trp1782Cys
ENST00000461221.5:c.*5129G>C	ENSP00000418548.1:n.*5129G>C
ENST00000468300.5:c.2021-1478G>C	ENSP00000417148.1:n.2021-1478G>C
ENST00000471181.6:c.5409G>C	ENSP00000418960.2:p.Trp1803Cys
ENST00000491747.6:c.2034G>C	ENSP00000420705.2:p.Trp678Cys
ENST00000493795.5:c.5205G>C	ENSP00000418775.1:p.Trp1735Cys
ENST00000586385.5:c.276G>C	ENSP00000465818.1:p.Trp92Cys
ENST00000591534.5:c.819G>C	ENSP00000467329.1:p.Trp273Cys
ENST00000591849.5:c.45G>C	ENSP00000465347.1:p.Trp15Cys
NM_007294.3:c.5346G>C , LRG_292t1:c.5346G>C	NP_009225.1:p.Trp1782Cys
NM_007297.3:c.5205G>C	NP_009228.2:p.Trp1735Cys
NM_007298.3:c.2034G>C	NP_009229.2:p.Trp678Cys
NM_007299.3:c.2021-1478G>C	NP_009230.2:n.2021-1478G>C
NM_007300.3:c.5409G>C	NP_009231.2:p.Trp1803Cys
NR_027676.1:n.5482G>C
NM_007294.4:c.5346G>C MANE Select	NP_009225.1:p.Trp1782Cys
NM_007297.4:c.5205G>C	NP_009228.2:p.Trp1735Cys
NM_007299.4:c.2021-1478G>C	NP_009230.2:n.2021-1478G>C
NM_007300.4:c.5409G>C	NP_009231.2:p.Trp1803Cys
NR_027676.2:n.5523G>C