Canonical Allele Identifier: CA10590641

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865471
• ClinVar RCV Id: RCV001072897
• dbSNP Id: rs80356920
• MyVariant Identifiers: chr17:g.41199716A>C (hg19) ; chr17:g.43047699A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047699A>C , CM000679.2:g.43047699A>C	GRCh38
NC_000017.10:g.41199716A>C , CM000679.1:g.41199716A>C	GRCh37
NC_000017.9:g.38453242A>C	NCBI36
NG_005905.2:g.170285T>G , LRG_292:g.170285T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5408T>G	ENSP00000417241.2:p.Val1803Gly
ENST00000470026.6:c.5411T>G	ENSP00000419274.2:p.Val1804Gly
ENST00000473961.6:c.5285T>G	ENSP00000420201.2:p.Val1762Gly
ENST00000476777.6:c.5405T>G	ENSP00000417554.2:p.Val1802Gly
ENST00000477152.6:c.5333T>G	ENSP00000419988.2:p.Val1778Gly
ENST00000478531.6:c.2099T>G	ENSP00000420412.2:p.Val700Gly
ENST00000489037.2:c.5333T>G	ENSP00000420781.2:p.Val1778Gly
ENST00000493919.6:c.1961T>G	ENSP00000418819.2:p.Val654Gly
ENST00000494123.6:c.5411T>G	ENSP00000419103.2:p.Val1804Gly
ENST00000497488.2:c.4523T>G	ENSP00000418986.2:p.Val1508Gly
ENST00000618469.2:c.5411T>G	ENSP00000478114.2:p.Val1804Gly
ENST00000634433.2:c.5288T>G	ENSP00000489431.2:p.Val1763Gly
ENST00000644379.2:c.5477T>G	ENSP00000496570.2:p.Val1826Gly
ENST00000644555.2:c.1961T>G	ENSP00000494614.2:p.Val654Gly
ENST00000652672.2:c.5270T>G	ENSP00000498906.2:p.Val1757Gly
ENST00000484087.6:c.1973T>G	ENSP00000419481.2:p.Val658Gly
ENST00000700081.1:n.1294T>G
ENST00000700082.1:n.775T>G
ENST00000357654.9:c.5411T>G MANE Select	ENSP00000350283.3:p.Val1804Gly
ENST00000471181.7:c.5474T>G	ENSP00000418960.2:p.Val1825Gly
ENST00000644379.1:c.1798T>G
ENST00000352993.7:c.1985T>G	ENSP00000312236.5:p.Val662Gly
ENST00000357654.7:c.5411T>G	ENSP00000350283.3:p.Val1804Gly
ENST00000461221.5:c.*5194T>G	ENSP00000418548.1:n.*5194T>G
ENST00000468300.5:c.2025T>G	ENSP00000417148.1:p.Cys675Trp
ENST00000471181.6:c.5474T>G	ENSP00000418960.2:p.Val1825Gly
ENST00000491747.6:c.2099T>G	ENSP00000420705.2:p.Val700Gly
ENST00000493795.5:c.5270T>G	ENSP00000418775.1:p.Val1757Gly
ENST00000586385.5:c.341T>G	ENSP00000465818.1:p.Val114Gly
ENST00000591534.5:c.884T>G	ENSP00000467329.1:p.Val295Gly
ENST00000591849.5:c.110T>G	ENSP00000465347.1:p.Val37Gly
NM_007294.3:c.5411T>G , LRG_292t1:c.5411T>G	NP_009225.1:p.Val1804Gly
NM_007297.3:c.5270T>G	NP_009228.2:p.Val1757Gly
NM_007298.3:c.2099T>G	NP_009229.2:p.Val700Gly
NM_007299.3:c.2025T>G	NP_009230.2:p.Cys675Trp
NM_007300.3:c.5474T>G	NP_009231.2:p.Val1825Gly
NR_027676.1:n.5547T>G
NM_007294.4:c.5411T>G MANE Select	NP_009225.1:p.Val1804Gly
NM_007297.4:c.5270T>G	NP_009228.2:p.Val1757Gly
NM_007299.4:c.2025T>G	NP_009230.2:p.Cys675Trp
NM_007300.4:c.5474T>G	NP_009231.2:p.Val1825Gly
NR_027676.2:n.5588T>G