Canonical Allele Identifier: CA10593218

Gene: BRCA1

Linked Data

• dbSNP Id: rs2154155577
• MyVariant Identifiers: chr17:g.41234528A>C (hg19) ; chr17:g.43082511A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082511A>C , CM000679.2:g.43082511A>C	GRCh38
NC_000017.10:g.41234528A>C , CM000679.1:g.41234528A>C	GRCh37
NC_000017.9:g.38488054A>C	NCBI36
NG_005905.2:g.135473T>G , LRG_292:g.135473T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4250T>G	ENSP00000417241.2:p.Val1417Gly
ENST00000470026.6:c.4250T>G	ENSP00000419274.2:p.Val1417Gly
ENST00000473961.6:c.4124T>G	ENSP00000420201.2:p.Val1375Gly
ENST00000476777.6:c.4244T>G	ENSP00000417554.2:p.Val1415Gly
ENST00000477152.6:c.4172T>G	ENSP00000419988.2:p.Val1391Gly
ENST00000478531.6:c.938T>G	ENSP00000420412.2:p.Val313Gly
ENST00000489037.2:c.4172T>G	ENSP00000420781.2:p.Val1391Gly
ENST00000493919.6:c.800T>G	ENSP00000418819.2:p.Val267Gly
ENST00000494123.6:c.4250T>G	ENSP00000419103.2:p.Val1417Gly
ENST00000497488.2:c.3362T>G	ENSP00000418986.2:p.Val1121Gly
ENST00000618469.2:c.4250T>G	ENSP00000478114.2:p.Val1417Gly
ENST00000634433.2:c.4127T>G	ENSP00000489431.2:p.Val1376Gly
ENST00000644379.2:c.4250T>G	ENSP00000496570.2:p.Val1417Gly
ENST00000644555.2:c.800T>G	ENSP00000494614.2:p.Val267Gly
ENST00000652672.2:c.4109T>G	ENSP00000498906.2:p.Val1370Gly
ENST00000484087.6:c.815T>G	ENSP00000419481.2:p.Val272Gly
ENST00000700182.1:c.860T>G	ENSP00000514849.1:p.Val287Gly
ENST00000357654.9:c.4250T>G MANE Select	ENSP00000350283.3:p.Val1417Gly
ENST00000471181.7:c.4250T>G	ENSP00000418960.2:p.Val1417Gly
ENST00000644379.1:c.571T>G
ENST00000352993.7:c.824T>G	ENSP00000312236.5:p.Val275Gly
ENST00000357654.7:c.4250T>G	ENSP00000350283.3:p.Val1417Gly
ENST00000461221.5:c.*4033T>G	ENSP00000418548.1:n.*4033T>G
ENST00000461574.1:c.544T>G
ENST00000468300.5:c.941T>G	ENSP00000417148.1:p.Val314Gly
ENST00000471181.6:c.4250T>G	ENSP00000418960.2:p.Val1417Gly
ENST00000478531.5:c.938T>G	ENSP00000420412.1:p.Val313Gly
ENST00000484087.5:c.563T>G	ENSP00000419481.1:p.Val188Gly
ENST00000487825.5:c.566T>G	ENSP00000418212.1:p.Val189Gly
ENST00000491747.6:c.941T>G	ENSP00000420705.2:p.Val314Gly
ENST00000493795.5:c.4109T>G	ENSP00000418775.1:p.Val1370Gly
ENST00000493919.5:c.800T>G	ENSP00000418819.1:p.Val267Gly
ENST00000586385.5:c.5-18560T>G	ENSP00000465818.1:n.5-18560T>G
ENST00000591534.5:c.-43-7990T>G	ENSP00000467329.1:n.-43-7990T>G
ENST00000591849.5:c.-98-32321T>G	ENSP00000465347.1:n.-98-32321T>G
ENST00000621897.1:n.144T>G
NM_007294.3:c.4250T>G , LRG_292t1:c.4250T>G	NP_009225.1:p.Val1417Gly
NM_007297.3:c.4109T>G	NP_009228.2:p.Val1370Gly
NM_007298.3:c.941T>G	NP_009229.2:p.Val314Gly
NM_007299.3:c.941T>G	NP_009230.2:p.Val314Gly
NM_007300.3:c.4250T>G	NP_009231.2:p.Val1417Gly
NR_027676.1:n.4386T>G
NM_007294.4:c.4250T>G MANE Select	NP_009225.1:p.Val1417Gly
NM_007297.4:c.4109T>G	NP_009228.2:p.Val1370Gly
NM_007299.4:c.941T>G	NP_009230.2:p.Val314Gly
NM_007300.4:c.4250T>G	NP_009231.2:p.Val1417Gly
NR_027676.2:n.4427T>G