Canonical Allele Identifier: CA003591

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55576
• ClinVar RCV Id: RCV000112654 ; RCV001355658
• dbSNP Id: rs80357451
• MyVariant Identifiers: chr17:g.41199698A>C (hg19) ; chr17:g.43047681A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047681A>C , CM000679.2:g.43047681A>C	GRCh38
NC_000017.10:g.41199698A>C , CM000679.1:g.41199698A>C	GRCh37
NC_000017.9:g.38453224A>C	NCBI36
NG_005905.2:g.170303T>G , LRG_292:g.170303T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5426T>G	ENSP00000417241.2:p.Val1809Gly
ENST00000470026.6:c.5429T>G	ENSP00000419274.2:p.Val1810Gly
ENST00000473961.6:c.5303T>G	ENSP00000420201.2:p.Val1768Gly
ENST00000476777.6:c.5423T>G	ENSP00000417554.2:p.Val1808Gly
ENST00000477152.6:c.5351T>G	ENSP00000419988.2:p.Val1784Gly
ENST00000478531.6:c.2117T>G	ENSP00000420412.2:p.Val706Gly
ENST00000489037.2:c.5351T>G	ENSP00000420781.2:p.Val1784Gly
ENST00000493919.6:c.1979T>G	ENSP00000418819.2:p.Val660Gly
ENST00000494123.6:c.5429T>G	ENSP00000419103.2:p.Val1810Gly
ENST00000497488.2:c.4541T>G	ENSP00000418986.2:p.Val1514Gly
ENST00000618469.2:c.5429T>G	ENSP00000478114.2:p.Val1810Gly
ENST00000634433.2:c.5306T>G	ENSP00000489431.2:p.Val1769Gly
ENST00000644379.2:c.5495T>G	ENSP00000496570.2:p.Val1832Gly
ENST00000644555.2:c.1979T>G	ENSP00000494614.2:p.Val660Gly
ENST00000652672.2:c.5288T>G	ENSP00000498906.2:p.Val1763Gly
ENST00000484087.6:c.1991T>G	ENSP00000419481.2:p.Val664Gly
ENST00000700081.1:n.1312T>G
ENST00000700082.1:n.793T>G
ENST00000357654.9:c.5429T>G MANE Select	ENSP00000350283.3:p.Val1810Gly
ENST00000471181.7:c.5492T>G	ENSP00000418960.2:p.Val1831Gly
ENST00000644379.1:c.1816T>G
ENST00000352993.7:c.2003T>G	ENSP00000312236.5:p.Val668Gly
ENST00000357654.7:c.5429T>G	ENSP00000350283.3:p.Val1810Gly
ENST00000461221.5:c.*5212T>G	ENSP00000418548.1:n.*5212T>G
ENST00000468300.5:c.2043T>G	ENSP00000417148.1:p.Cys681Trp
ENST00000471181.6:c.5492T>G	ENSP00000418960.2:p.Val1831Gly
ENST00000491747.6:c.2117T>G	ENSP00000420705.2:p.Val706Gly
ENST00000493795.5:c.5288T>G	ENSP00000418775.1:p.Val1763Gly
ENST00000586385.5:c.359T>G	ENSP00000465818.1:p.Val120Gly
ENST00000591534.5:c.902T>G	ENSP00000467329.1:p.Val301Gly
ENST00000591849.5:c.128T>G	ENSP00000465347.1:p.Val43Gly
NM_007294.3:c.5429T>G , LRG_292t1:c.5429T>G	NP_009225.1:p.Val1810Gly
NM_007297.3:c.5288T>G	NP_009228.2:p.Val1763Gly
NM_007298.3:c.2117T>G	NP_009229.2:p.Val706Gly
NM_007299.3:c.2043T>G	NP_009230.2:p.Cys681Trp
NM_007300.3:c.5492T>G	NP_009231.2:p.Val1831Gly
NR_027676.1:n.5565T>G
NM_007294.4:c.5429T>G MANE Select	NP_009225.1:p.Val1810Gly
NM_007297.4:c.5288T>G	NP_009228.2:p.Val1763Gly
NM_007299.4:c.2043T>G	NP_009230.2:p.Cys681Trp
NM_007300.4:c.5492T>G	NP_009231.2:p.Val1831Gly
NR_027676.2:n.5606T>G