Canonical Allele Identifier: CA10590302

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867611
• ClinVar RCV Id: RCV001076335
• dbSNP Id: rs2050878133
• MyVariant Identifiers: chr17:g.41197780T>G (hg19) ; chr17:g.43045763T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045763T>G , CM000679.2:g.43045763T>G	GRCh38
NC_000017.10:g.41197780T>G , CM000679.1:g.41197780T>G	GRCh37
NC_000017.9:g.38451306T>G	NCBI36
NG_005905.2:g.172221A>C , LRG_292:g.172221A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5504A>C	ENSP00000417241.2:p.Glu1835Ala
ENST00000470026.6:c.5507A>C	ENSP00000419274.2:p.Glu1836Ala
ENST00000473961.6:c.5381A>C	ENSP00000420201.2:p.Glu1794Ala
ENST00000476777.6:c.5501A>C	ENSP00000417554.2:p.Glu1834Ala
ENST00000477152.6:c.5429A>C	ENSP00000419988.2:p.Glu1810Ala
ENST00000478531.6:c.2195A>C	ENSP00000420412.2:p.Glu732Ala
ENST00000489037.2:c.5429A>C	ENSP00000420781.2:p.Glu1810Ala
ENST00000493919.6:c.2057A>C	ENSP00000418819.2:p.Glu686Ala
ENST00000494123.6:c.5507A>C	ENSP00000419103.2:p.Glu1836Ala
ENST00000497488.2:c.4619A>C	ENSP00000418986.2:p.Glu1540Ala
ENST00000618469.2:c.5507A>C	ENSP00000478114.2:p.Glu1836Ala
ENST00000634433.2:c.5384A>C	ENSP00000489431.2:p.Glu1795Ala
ENST00000644379.2:c.5573A>C	ENSP00000496570.2:p.Glu1858Ala
ENST00000644555.2:c.2057A>C	ENSP00000494614.2:p.Glu686Ala
ENST00000652672.2:c.5366A>C	ENSP00000498906.2:p.Glu1789Ala
ENST00000484087.6:c.2069A>C	ENSP00000419481.2:p.Glu690Ala
ENST00000700081.1:n.1390A>C
ENST00000700082.1:n.871A>C
ENST00000357654.9:c.5507A>C MANE Select	ENSP00000350283.3:p.Glu1836Ala
ENST00000471181.7:c.5570A>C	ENSP00000418960.2:p.Glu1857Ala
ENST00000644379.1:c.1894A>C
ENST00000352993.7:c.2081A>C	ENSP00000312236.5:p.Glu694Ala
ENST00000357654.7:c.5507A>C	ENSP00000350283.3:p.Glu1836Ala
ENST00000461221.5:c.*5290A>C	ENSP00000418548.1:n.*5290A>C
ENST00000468300.5:c.*21A>C	ENSP00000417148.1:n.*21A>C
ENST00000471181.6:c.5570A>C	ENSP00000418960.2:p.Glu1857Ala
ENST00000491747.6:c.2195A>C	ENSP00000420705.2:p.Glu732Ala
ENST00000493795.5:c.5366A>C	ENSP00000418775.1:p.Glu1789Ala
ENST00000586385.5:c.437A>C	ENSP00000465818.1:p.Glu146Ala
ENST00000591534.5:c.980A>C	ENSP00000467329.1:p.Glu327Ala
ENST00000591849.5:c.206A>C	ENSP00000465347.1:p.Glu69Ala
NM_007294.3:c.5507A>C , LRG_292t1:c.5507A>C	NP_009225.1:p.Glu1836Ala
NM_007297.3:c.5366A>C	NP_009228.2:p.Glu1789Ala
NM_007298.3:c.2195A>C	NP_009229.2:p.Glu732Ala
NM_007299.3:c.*21A>C	NP_009230.2:n.*21A>C
NM_007300.3:c.5570A>C	NP_009231.2:p.Glu1857Ala
NR_027676.1:n.5643A>C
NM_007294.4:c.5507A>C MANE Select	NP_009225.1:p.Glu1836Ala
NM_007297.4:c.5366A>C	NP_009228.2:p.Glu1789Ala
NM_007299.4:c.*21A>C	NP_009230.2:n.*21A>C
NM_007300.4:c.5570A>C	NP_009231.2:p.Glu1857Ala
NR_027676.2:n.5684A>C