Canonical Allele Identifier: CA10590650
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 868464
ClinVar RCV Id: RCV001077371
dbSNP Id: rs2050995166

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047701A>C , CM000679.2:g.43047701A>C GRCh38
NC_000017.10:g.41199718A>C , CM000679.1:g.41199718A>C GRCh37
NC_000017.9:g.38453244A>C NCBI36
NG_005905.2:g.170283T>G , LRG_292:g.170283T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5406T>G ENSP00000417241.2:p.Gly1802=
ENST00000470026.6:c.5409T>G ENSP00000419274.2:p.Gly1803=
ENST00000473961.6:c.5283T>G ENSP00000420201.2:p.Gly1761=
ENST00000476777.6:c.5403T>G ENSP00000417554.2:p.Gly1801=
ENST00000477152.6:c.5331T>G ENSP00000419988.2:p.Gly1777=
ENST00000478531.6:c.2097T>G ENSP00000420412.2:p.Gly699=
ENST00000489037.2:c.5331T>G ENSP00000420781.2:p.Gly1777=
ENST00000493919.6:c.1959T>G ENSP00000418819.2:p.Gly653=
ENST00000494123.6:c.5409T>G ENSP00000419103.2:p.Gly1803=
ENST00000497488.2:c.4521T>G ENSP00000418986.2:p.Gly1507=
ENST00000618469.2:c.5409T>G ENSP00000478114.2:p.Gly1803=
ENST00000634433.2:c.5286T>G ENSP00000489431.2:p.Gly1762=
ENST00000644379.2:c.5475T>G ENSP00000496570.2:p.Gly1825=
ENST00000644555.2:c.1959T>G ENSP00000494614.2:p.Gly653=
ENST00000652672.2:c.5268T>G ENSP00000498906.2:p.Gly1756=
ENST00000484087.6:c.1971T>G ENSP00000419481.2:p.Gly657=
ENST00000700081.1:n.1292T>G
ENST00000700082.1:n.773T>G
ENST00000357654.9:c.5409T>G MANE Select ENSP00000350283.3:p.Gly1803=
ENST00000471181.7:c.5472T>G ENSP00000418960.2:p.Gly1824=
ENST00000644379.1:c.1796T>G
ENST00000352993.7:c.1983T>G ENSP00000312236.5:p.Gly661=
ENST00000357654.7:c.5409T>G ENSP00000350283.3:p.Gly1803=
ENST00000461221.5:c.*5192T>G ENSP00000418548.1:n.*5192T>G
ENST00000468300.5:c.2023T>G ENSP00000417148.1:p.Cys675Gly
ENST00000471181.6:c.5472T>G ENSP00000418960.2:p.Gly1824=
ENST00000491747.6:c.2097T>G ENSP00000420705.2:p.Gly699=
ENST00000493795.5:c.5268T>G ENSP00000418775.1:p.Gly1756=
ENST00000586385.5:c.339T>G ENSP00000465818.1:p.Gly113=
ENST00000591534.5:c.882T>G ENSP00000467329.1:p.Gly294=
ENST00000591849.5:c.108T>G ENSP00000465347.1:p.Gly36=
NM_007294.3:c.5409T>G , LRG_292t1:c.5409T>G NP_009225.1:p.Gly1803=
NM_007297.3:c.5268T>G NP_009228.2:p.Gly1756=
NM_007298.3:c.2097T>G NP_009229.2:p.Gly699=
NM_007299.3:c.2023T>G NP_009230.2:p.Cys675Gly
NM_007300.3:c.5472T>G NP_009231.2:p.Gly1824=
NR_027676.1:n.5545T>G
NM_007294.4:c.5409T>G MANE Select NP_009225.1:p.Gly1803=
NM_007297.4:c.5268T>G NP_009228.2:p.Gly1756=
NM_007299.4:c.2023T>G NP_009230.2:p.Cys675Gly
NM_007300.4:c.5472T>G NP_009231.2:p.Gly1824=
NR_027676.2:n.5586T>G