Canonical Allele Identifier: CA10590457

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865543
• ClinVar RCV Id: RCV001072983
• dbSNP Id: rs398122698
• MyVariant Identifiers: chr17:g.41199669C>A (hg19) ; chr17:g.43047652C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047652C>A , CM000679.2:g.43047652C>A	GRCh38
NC_000017.10:g.41199669C>A , CM000679.1:g.41199669C>A	GRCh37
NC_000017.9:g.38453195C>A	NCBI36
NG_005905.2:g.170332G>T , LRG_292:g.170332G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5455G>T	ENSP00000417241.2:p.Gly1819Cys
ENST00000470026.6:c.5458G>T	ENSP00000419274.2:p.Gly1820Cys
ENST00000473961.6:c.5332G>T	ENSP00000420201.2:p.Gly1778Cys
ENST00000476777.6:c.5452G>T	ENSP00000417554.2:p.Gly1818Cys
ENST00000477152.6:c.5380G>T	ENSP00000419988.2:p.Gly1794Cys
ENST00000478531.6:c.2146G>T	ENSP00000420412.2:p.Gly716Cys
ENST00000489037.2:c.5380G>T	ENSP00000420781.2:p.Gly1794Cys
ENST00000493919.6:c.2008G>T	ENSP00000418819.2:p.Gly670Cys
ENST00000494123.6:c.5458G>T	ENSP00000419103.2:p.Gly1820Cys
ENST00000497488.2:c.4570G>T	ENSP00000418986.2:p.Gly1524Cys
ENST00000618469.2:c.5458G>T	ENSP00000478114.2:p.Gly1820Cys
ENST00000634433.2:c.5335G>T	ENSP00000489431.2:p.Gly1779Cys
ENST00000644379.2:c.5524G>T	ENSP00000496570.2:p.Gly1842Cys
ENST00000644555.2:c.2008G>T	ENSP00000494614.2:p.Gly670Cys
ENST00000652672.2:c.5317G>T	ENSP00000498906.2:p.Gly1773Cys
ENST00000484087.6:c.2020G>T	ENSP00000419481.2:p.Gly674Cys
ENST00000700081.1:n.1341G>T
ENST00000700082.1:n.822G>T
ENST00000357654.9:c.5458G>T MANE Select	ENSP00000350283.3:p.Gly1820Cys
ENST00000471181.7:c.5521G>T	ENSP00000418960.2:p.Gly1841Cys
ENST00000644379.1:c.1845G>T
ENST00000352993.7:c.2032G>T	ENSP00000312236.5:p.Gly678Cys
ENST00000357654.7:c.5458G>T	ENSP00000350283.3:p.Gly1820Cys
ENST00000461221.5:c.*5241G>T	ENSP00000418548.1:n.*5241G>T
ENST00000468300.5:c.2072G>T	ENSP00000417148.1:p.Trp691Leu
ENST00000471181.6:c.5521G>T	ENSP00000418960.2:p.Gly1841Cys
ENST00000491747.6:c.2146G>T	ENSP00000420705.2:p.Gly716Cys
ENST00000493795.5:c.5317G>T	ENSP00000418775.1:p.Gly1773Cys
ENST00000586385.5:c.388G>T	ENSP00000465818.1:p.Gly130Cys
ENST00000591534.5:c.931G>T	ENSP00000467329.1:p.Gly311Cys
ENST00000591849.5:c.157G>T	ENSP00000465347.1:p.Gly53Cys
NM_007294.3:c.5458G>T , LRG_292t1:c.5458G>T	NP_009225.1:p.Gly1820Cys
NM_007297.3:c.5317G>T	NP_009228.2:p.Gly1773Cys
NM_007298.3:c.2146G>T	NP_009229.2:p.Gly716Cys
NM_007299.3:c.2072G>T	NP_009230.2:p.Trp691Leu
NM_007300.3:c.5521G>T	NP_009231.2:p.Gly1841Cys
NR_027676.1:n.5594G>T
NM_007294.4:c.5458G>T MANE Select	NP_009225.1:p.Gly1820Cys
NM_007297.4:c.5317G>T	NP_009228.2:p.Gly1773Cys
NM_007299.4:c.2072G>T	NP_009230.2:p.Trp691Leu
NM_007300.4:c.5521G>T	NP_009231.2:p.Gly1841Cys
NR_027676.2:n.5635G>T