Canonical Allele Identifier: CA10590748

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865655
• ClinVar RCV Id: RCV001359204
• dbSNP Id: rs80357065
• MyVariant Identifiers: chr17:g.41201185A>G (hg19) ; chr17:g.43049168A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049168A>G , CM000679.2:g.43049168A>G	GRCh38
NC_000017.10:g.41201185A>G , CM000679.1:g.41201185A>G	GRCh37
NC_000017.9:g.38454711A>G	NCBI36
NG_005905.2:g.168816T>C , LRG_292:g.168816T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5356T>C	ENSP00000417241.2:p.Cys1786Arg
ENST00000470026.6:c.5359T>C	ENSP00000419274.2:p.Cys1787Arg
ENST00000473961.6:c.5233T>C	ENSP00000420201.2:p.Cys1745Arg
ENST00000476777.6:c.5353T>C	ENSP00000417554.2:p.Cys1785Arg
ENST00000477152.6:c.5281T>C	ENSP00000419988.2:p.Cys1761Arg
ENST00000478531.6:c.2047T>C	ENSP00000420412.2:p.Cys683Arg
ENST00000489037.2:c.5281T>C	ENSP00000420781.2:p.Cys1761Arg
ENST00000493919.6:c.1909T>C	ENSP00000418819.2:p.Cys637Arg
ENST00000494123.6:c.5359T>C	ENSP00000419103.2:p.Cys1787Arg
ENST00000497488.2:c.4471T>C	ENSP00000418986.2:p.Cys1491Arg
ENST00000618469.2:c.5359T>C	ENSP00000478114.2:p.Cys1787Arg
ENST00000634433.2:c.5236T>C	ENSP00000489431.2:p.Cys1746Arg
ENST00000644379.2:c.5425T>C	ENSP00000496570.2:p.Cys1809Arg
ENST00000644555.2:c.1909T>C	ENSP00000494614.2:p.Cys637Arg
ENST00000652672.2:c.5218T>C	ENSP00000498906.2:p.Cys1740Arg
ENST00000484087.6:c.1921T>C	ENSP00000419481.2:p.Cys641Arg
ENST00000700081.1:n.1242T>C
ENST00000357654.9:c.5359T>C MANE Select	ENSP00000350283.3:p.Cys1787Arg
ENST00000471181.7:c.5422T>C	ENSP00000418960.2:p.Cys1808Arg
ENST00000644379.1:c.1746T>C
ENST00000352993.7:c.1933T>C	ENSP00000312236.5:p.Cys645Arg
ENST00000357654.7:c.5359T>C	ENSP00000350283.3:p.Cys1787Arg
ENST00000461221.5:c.*5142T>C	ENSP00000418548.1:n.*5142T>C
ENST00000468300.5:c.2021-1465T>C	ENSP00000417148.1:n.2021-1465T>C
ENST00000471181.6:c.5422T>C	ENSP00000418960.2:p.Cys1808Arg
ENST00000491747.6:c.2047T>C	ENSP00000420705.2:p.Cys683Arg
ENST00000493795.5:c.5218T>C	ENSP00000418775.1:p.Cys1740Arg
ENST00000586385.5:c.289T>C	ENSP00000465818.1:p.Cys97Arg
ENST00000591534.5:c.832T>C	ENSP00000467329.1:p.Cys278Arg
ENST00000591849.5:c.58T>C	ENSP00000465347.1:p.Cys20Arg
NM_007294.3:c.5359T>C , LRG_292t1:c.5359T>C	NP_009225.1:p.Cys1787Arg
NM_007297.3:c.5218T>C	NP_009228.2:p.Cys1740Arg
NM_007298.3:c.2047T>C	NP_009229.2:p.Cys683Arg
NM_007299.3:c.2021-1465T>C	NP_009230.2:n.2021-1465T>C
NM_007300.3:c.5422T>C	NP_009231.2:p.Cys1808Arg
NR_027676.1:n.5495T>C
NM_007294.4:c.5359T>C MANE Select	NP_009225.1:p.Cys1787Arg
NM_007297.4:c.5218T>C	NP_009228.2:p.Cys1740Arg
NM_007299.4:c.2021-1465T>C	NP_009230.2:n.2021-1465T>C
NM_007300.4:c.5422T>C	NP_009231.2:p.Cys1808Arg
NR_027676.2:n.5536T>C