Canonical Allele Identifier: CA003608

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 91650
• ClinVar RCV Id: RCV000077167 ; RCV000222285 ; RCV000814710 ; RCV003607233
• dbSNP Id: rs398122698
• gnomAD v4: 17-43047652-C-T
• MyVariant Identifiers: chr17:g.41199669C>T (hg19) ; chr17:g.43047652C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5455G>A	ENSP00000417241.2:p.Gly1819Ser
ENST00000470026.6:c.5458G>A	ENSP00000419274.2:p.Gly1820Ser
ENST00000473961.6:c.5332G>A	ENSP00000420201.2:p.Gly1778Ser
ENST00000476777.6:c.5452G>A	ENSP00000417554.2:p.Gly1818Ser
ENST00000477152.6:c.5380G>A	ENSP00000419988.2:p.Gly1794Ser
ENST00000478531.6:c.2146G>A	ENSP00000420412.2:p.Gly716Ser
ENST00000489037.2:c.5380G>A	ENSP00000420781.2:p.Gly1794Ser
ENST00000493919.6:c.2008G>A	ENSP00000418819.2:p.Gly670Ser
ENST00000494123.6:c.5458G>A	ENSP00000419103.2:p.Gly1820Ser
ENST00000497488.2:c.4570G>A	ENSP00000418986.2:p.Gly1524Ser
ENST00000618469.2:c.5458G>A	ENSP00000478114.2:p.Gly1820Ser
ENST00000634433.2:c.5335G>A	ENSP00000489431.2:p.Gly1779Ser
ENST00000644379.2:c.5524G>A	ENSP00000496570.2:p.Gly1842Ser
ENST00000644555.2:c.2008G>A	ENSP00000494614.2:p.Gly670Ser
ENST00000652672.2:c.5317G>A	ENSP00000498906.2:p.Gly1773Ser
ENST00000484087.6:c.2020G>A	ENSP00000419481.2:p.Gly674Ser
ENST00000700081.1:n.1341G>A
ENST00000700082.1:n.822G>A
ENST00000357654.9:c.5458G>A MANE Select	ENSP00000350283.3:p.Gly1820Ser
ENST00000471181.7:c.5521G>A	ENSP00000418960.2:p.Gly1841Ser
ENST00000644379.1:c.1845G>A
ENST00000352993.7:c.2032G>A	ENSP00000312236.5:p.Gly678Ser
ENST00000357654.7:c.5458G>A	ENSP00000350283.3:p.Gly1820Ser
ENST00000461221.5:c.*5241G>A	ENSP00000418548.1:n.*5241G>A
ENST00000468300.5:c.2072G>A	ENSP00000417148.1:p.Trp691Ter
ENST00000471181.6:c.5521G>A	ENSP00000418960.2:p.Gly1841Ser
ENST00000491747.6:c.2146G>A	ENSP00000420705.2:p.Gly716Ser
ENST00000493795.5:c.5317G>A	ENSP00000418775.1:p.Gly1773Ser
ENST00000586385.5:c.388G>A	ENSP00000465818.1:p.Gly130Ser
ENST00000591534.5:c.931G>A	ENSP00000467329.1:p.Gly311Ser
ENST00000591849.5:c.157G>A	ENSP00000465347.1:p.Gly53Ser
NM_007294.3:c.5458G>A , LRG_292t1:c.5458G>A	NP_009225.1:p.Gly1820Ser
NM_007297.3:c.5317G>A	NP_009228.2:p.Gly1773Ser
NM_007298.3:c.2146G>A	NP_009229.2:p.Gly716Ser
NM_007299.3:c.2072G>A	NP_009230.2:p.Trp691Ter
NM_007300.3:c.5521G>A	NP_009231.2:p.Gly1841Ser
NR_027676.1:n.5594G>A
NM_007294.4:c.5458G>A MANE Select	NP_009225.1:p.Gly1820Ser
NM_007297.4:c.5317G>A	NP_009228.2:p.Gly1773Ser
NM_007299.4:c.2072G>A	NP_009230.2:p.Trp691Ter
NM_007300.4:c.5521G>A	NP_009231.2:p.Gly1841Ser
NR_027676.2:n.5635G>A