Canonical Allele Identifier: CA10592335

Gene: BRCA1

Linked Data

• dbSNP Id: rs398122689
• MyVariant Identifiers: chr17:g.41226434T>C (hg19) ; chr17:g.43074417T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074417T>C , CM000679.2:g.43074417T>C	GRCh38
NC_000017.10:g.41226434T>C , CM000679.1:g.41226434T>C	GRCh37
NC_000017.9:g.38479960T>C	NCBI36
NG_005905.2:g.143567A>G , LRG_292:g.143567A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4586A>G	ENSP00000417241.2:p.Lys1529Arg
ENST00000470026.6:c.4589A>G	ENSP00000419274.2:p.Lys1530Arg
ENST00000473961.6:c.4463A>G	ENSP00000420201.2:p.Lys1488Arg
ENST00000476777.6:c.4583A>G	ENSP00000417554.2:p.Lys1528Arg
ENST00000477152.6:c.4511A>G	ENSP00000419988.2:p.Lys1504Arg
ENST00000478531.6:c.1277A>G	ENSP00000420412.2:p.Lys426Arg
ENST00000489037.2:c.4511A>G	ENSP00000420781.2:p.Lys1504Arg
ENST00000493919.6:c.1139A>G	ENSP00000418819.2:p.Lys380Arg
ENST00000494123.6:c.4589A>G	ENSP00000419103.2:p.Lys1530Arg
ENST00000497488.2:c.3701A>G	ENSP00000418986.2:p.Lys1234Arg
ENST00000618469.2:c.4589A>G	ENSP00000478114.2:p.Lys1530Arg
ENST00000634433.2:c.4466A>G	ENSP00000489431.2:p.Lys1489Arg
ENST00000644379.2:c.4655A>G	ENSP00000496570.2:p.Lys1552Arg
ENST00000644555.2:c.1139A>G	ENSP00000494614.2:p.Lys380Arg
ENST00000652672.2:c.4448A>G	ENSP00000498906.2:p.Lys1483Arg
ENST00000484087.6:c.1151A>G	ENSP00000419481.2:p.Lys384Arg
ENST00000700182.1:c.1196A>G	ENSP00000514849.1:p.Lys399Arg
ENST00000357654.9:c.4589A>G MANE Select	ENSP00000350283.3:p.Lys1530Arg
ENST00000471181.7:c.4652A>G	ENSP00000418960.2:p.Lys1551Arg
ENST00000644379.1:c.976A>G
ENST00000352993.7:c.1163A>G	ENSP00000312236.5:p.Lys388Arg
ENST00000357654.7:c.4589A>G	ENSP00000350283.3:p.Lys1530Arg
ENST00000461221.5:c.*4372A>G	ENSP00000418548.1:n.*4372A>G
ENST00000468300.5:c.1277A>G	ENSP00000417148.1:p.Lys426Arg
ENST00000471181.6:c.4652A>G	ENSP00000418960.2:p.Lys1551Arg
ENST00000478531.5:c.1277A>G	ENSP00000420412.1:p.Lys426Arg
ENST00000484087.5:c.902A>G	ENSP00000419481.1:p.Lys301Arg
ENST00000491747.6:c.1277A>G	ENSP00000420705.2:p.Lys426Arg
ENST00000493795.5:c.4448A>G	ENSP00000418775.1:p.Lys1483Arg
ENST00000493919.5:c.1139A>G	ENSP00000418819.1:p.Lys380Arg
ENST00000586385.5:c.5-10466A>G	ENSP00000465818.1:n.5-10466A>G
ENST00000591534.5:c.62A>G	ENSP00000467329.1:p.Lys21Arg
ENST00000591849.5:c.-98-24227A>G	ENSP00000465347.1:n.-98-24227A>G
NM_007294.3:c.4589A>G , LRG_292t1:c.4589A>G	NP_009225.1:p.Lys1530Arg
NM_007297.3:c.4448A>G	NP_009228.2:p.Lys1483Arg
NM_007298.3:c.1277A>G	NP_009229.2:p.Lys426Arg
NM_007299.3:c.1277A>G	NP_009230.2:p.Lys426Arg
NM_007300.3:c.4652A>G	NP_009231.2:p.Lys1551Arg
NR_027676.1:n.4725A>G
NM_007294.4:c.4589A>G MANE Select	NP_009225.1:p.Lys1530Arg
NM_007297.4:c.4448A>G	NP_009228.2:p.Lys1483Arg
NM_007299.4:c.1277A>G	NP_009230.2:p.Lys426Arg
NM_007300.4:c.4652A>G	NP_009231.2:p.Lys1551Arg
NR_027676.2:n.4766A>G