Canonical Allele Identifier: CA10590657
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 868074
ClinVar RCV Id: RCV001076894
dbSNP Id: rs876659510

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047703C>G , CM000679.2:g.43047703C>G GRCh38
NC_000017.10:g.41199720C>G , CM000679.1:g.41199720C>G GRCh37
NC_000017.9:g.38453246C>G NCBI36
NG_005905.2:g.170281G>C , LRG_292:g.170281G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5404G>C ENSP00000417241.2:p.Gly1802Arg
ENST00000470026.6:c.5407G>C ENSP00000419274.2:p.Gly1803Arg
ENST00000473961.6:c.5281G>C ENSP00000420201.2:p.Gly1761Arg
ENST00000476777.6:c.5401G>C ENSP00000417554.2:p.Gly1801Arg
ENST00000477152.6:c.5329G>C ENSP00000419988.2:p.Gly1777Arg
ENST00000478531.6:c.2095G>C ENSP00000420412.2:p.Gly699Arg
ENST00000489037.2:c.5329G>C ENSP00000420781.2:p.Gly1777Arg
ENST00000493919.6:c.1957G>C ENSP00000418819.2:p.Gly653Arg
ENST00000494123.6:c.5407G>C ENSP00000419103.2:p.Gly1803Arg
ENST00000497488.2:c.4519G>C ENSP00000418986.2:p.Gly1507Arg
ENST00000618469.2:c.5407G>C ENSP00000478114.2:p.Gly1803Arg
ENST00000634433.2:c.5284G>C ENSP00000489431.2:p.Gly1762Arg
ENST00000644379.2:c.5473G>C ENSP00000496570.2:p.Gly1825Arg
ENST00000644555.2:c.1957G>C ENSP00000494614.2:p.Gly653Arg
ENST00000652672.2:c.5266G>C ENSP00000498906.2:p.Gly1756Arg
ENST00000484087.6:c.1969G>C ENSP00000419481.2:p.Gly657Arg
ENST00000700081.1:n.1290G>C
ENST00000700082.1:n.771G>C
ENST00000357654.9:c.5407G>C MANE Select ENSP00000350283.3:p.Gly1803Arg
ENST00000471181.7:c.5470G>C ENSP00000418960.2:p.Gly1824Arg
ENST00000644379.1:c.1794G>C
ENST00000352993.7:c.1981G>C ENSP00000312236.5:p.Gly661Arg
ENST00000357654.7:c.5407G>C ENSP00000350283.3:p.Gly1803Arg
ENST00000461221.5:c.*5190G>C ENSP00000418548.1:n.*5190G>C
ENST00000468300.5:c.2021G>C ENSP00000417148.1:p.Gly674Ala
ENST00000471181.6:c.5470G>C ENSP00000418960.2:p.Gly1824Arg
ENST00000491747.6:c.2095G>C ENSP00000420705.2:p.Gly699Arg
ENST00000493795.5:c.5266G>C ENSP00000418775.1:p.Gly1756Arg
ENST00000586385.5:c.337G>C ENSP00000465818.1:p.Gly113Arg
ENST00000591534.5:c.880G>C ENSP00000467329.1:p.Gly294Arg
ENST00000591849.5:c.106G>C ENSP00000465347.1:p.Gly36Arg
NM_007294.3:c.5407G>C , LRG_292t1:c.5407G>C NP_009225.1:p.Gly1803Arg
NM_007297.3:c.5266G>C NP_009228.2:p.Gly1756Arg
NM_007298.3:c.2095G>C NP_009229.2:p.Gly699Arg
NM_007299.3:c.2021G>C NP_009230.2:p.Gly674Ala
NM_007300.3:c.5470G>C NP_009231.2:p.Gly1824Arg
NR_027676.1:n.5543G>C
NM_007294.4:c.5407G>C MANE Select NP_009225.1:p.Gly1803Arg
NM_007297.4:c.5266G>C NP_009228.2:p.Gly1756Arg
NM_007299.4:c.2021G>C NP_009230.2:p.Gly674Ala
NM_007300.4:c.5470G>C NP_009231.2:p.Gly1824Arg
NR_027676.2:n.5584G>C