Canonical Allele Identifier: CA10593422

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090979C>T , CM000679.2:g.43090979C>T	GRCh38
NC_000017.10:g.41242996C>T , CM000679.1:g.41242996C>T	GRCh37
NC_000017.9:g.38496522C>T	NCBI36
NG_005905.2:g.127005G>A , LRG_292:g.127005G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4150G>A	ENSP00000417241.2:p.Gly1384Arg
ENST00000470026.6:c.4150G>A	ENSP00000419274.2:p.Gly1384Arg
ENST00000473961.6:c.4024G>A	ENSP00000420201.2:p.Gly1342Arg
ENST00000476777.6:c.4147G>A	ENSP00000417554.2:p.Gly1383Arg
ENST00000477152.6:c.4072G>A	ENSP00000419988.2:p.Gly1358Arg
ENST00000478531.6:c.838G>A	ENSP00000420412.2:p.Gly280Arg
ENST00000489037.2:c.4072G>A	ENSP00000420781.2:p.Gly1358Arg
ENST00000493919.6:c.700G>A	ENSP00000418819.2:p.Gly234Arg
ENST00000494123.6:c.4150G>A	ENSP00000419103.2:p.Gly1384Arg
ENST00000497488.2:c.3262G>A	ENSP00000418986.2:p.Gly1088Arg
ENST00000618469.2:c.4150G>A	ENSP00000478114.2:p.Gly1384Arg
ENST00000634433.2:c.4027G>A	ENSP00000489431.2:p.Gly1343Arg
ENST00000644379.2:c.4150G>A	ENSP00000496570.2:p.Gly1384Arg
ENST00000644555.2:c.700G>A	ENSP00000494614.2:p.Gly234Arg
ENST00000652672.2:c.4009G>A	ENSP00000498906.2:p.Gly1337Arg
ENST00000484087.6:c.718G>A	ENSP00000419481.2:p.Gly240Arg
ENST00000700182.1:c.760G>A	ENSP00000514849.1:p.Gly254Arg
ENST00000357654.9:c.4150G>A MANE Select	ENSP00000350283.3:p.Gly1384Arg
ENST00000471181.7:c.4150G>A	ENSP00000418960.2:p.Gly1384Arg
ENST00000644379.1:c.471G>A
ENST00000352993.7:c.724G>A	ENSP00000312236.5:p.Gly242Arg
ENST00000357654.7:c.4150G>A	ENSP00000350283.3:p.Gly1384Arg
ENST00000461221.5:c.*3933G>A	ENSP00000418548.1:n.*3933G>A
ENST00000461574.1:c.444G>A
ENST00000468300.5:c.841G>A	ENSP00000417148.1:p.Gly281Arg
ENST00000471181.6:c.4150G>A	ENSP00000418960.2:p.Gly1384Arg
ENST00000478531.5:c.838G>A	ENSP00000420412.1:p.Gly280Arg
ENST00000484087.5:c.463G>A	ENSP00000419481.1:p.Gly155Arg
ENST00000487825.5:c.466G>A	ENSP00000418212.1:p.Gly156Arg
ENST00000491747.6:c.841G>A	ENSP00000420705.2:p.Gly281Arg
ENST00000493795.5:c.4009G>A	ENSP00000418775.1:p.Gly1337Arg
ENST00000493919.5:c.700G>A	ENSP00000418819.1:p.Gly234Arg
ENST00000586385.5:c.5-27028G>A	ENSP00000465818.1:n.5-27028G>A
ENST00000591534.5:c.-43-16458G>A	ENSP00000467329.1:n.-43-16458G>A
ENST00000591849.5:c.-99+34292G>A	ENSP00000465347.1:n.-99+34292G>A
NM_007294.3:c.4150G>A , LRG_292t1:c.4150G>A	NP_009225.1:p.Gly1384Arg
NM_007297.3:c.4009G>A	NP_009228.2:p.Gly1337Arg
NM_007298.3:c.841G>A	NP_009229.2:p.Gly281Arg
NM_007299.3:c.841G>A	NP_009230.2:p.Gly281Arg
NM_007300.3:c.4150G>A	NP_009231.2:p.Gly1384Arg
NR_027676.1:n.4286G>A
NM_007294.4:c.4150G>A MANE Select	NP_009225.1:p.Gly1384Arg
NM_007297.4:c.4009G>A	NP_009228.2:p.Gly1337Arg
NM_007299.4:c.841G>A	NP_009230.2:p.Gly281Arg
NM_007300.4:c.4150G>A	NP_009231.2:p.Gly1384Arg
NR_027676.2:n.4327G>A