Canonical Allele Identifier: CA10592187
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs2153988983

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43074343T>C , CM000679.2:g.43074343T>C GRCh38
NC_000017.10:g.41226360T>C , CM000679.1:g.41226360T>C GRCh37
NC_000017.9:g.38479886T>C NCBI36
NG_005905.2:g.143641A>G , LRG_292:g.143641A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4660A>G ENSP00000417241.2:p.Arg1554Gly
ENST00000470026.6:c.4663A>G ENSP00000419274.2:p.Arg1555Gly
ENST00000473961.6:c.4537A>G ENSP00000420201.2:p.Arg1513Gly
ENST00000476777.6:c.4657A>G ENSP00000417554.2:p.Arg1553Gly
ENST00000477152.6:c.4585A>G ENSP00000419988.2:p.Arg1529Gly
ENST00000478531.6:c.1351A>G ENSP00000420412.2:p.Arg451Gly
ENST00000489037.2:c.4585A>G ENSP00000420781.2:p.Arg1529Gly
ENST00000493919.6:c.1213A>G ENSP00000418819.2:p.Arg405Gly
ENST00000494123.6:c.4663A>G ENSP00000419103.2:p.Arg1555Gly
ENST00000497488.2:c.3775A>G ENSP00000418986.2:p.Arg1259Gly
ENST00000618469.2:c.4663A>G ENSP00000478114.2:p.Arg1555Gly
ENST00000634433.2:c.4540A>G ENSP00000489431.2:p.Arg1514Gly
ENST00000644379.2:c.4729A>G ENSP00000496570.2:p.Arg1577Gly
ENST00000644555.2:c.1213A>G ENSP00000494614.2:p.Arg405Gly
ENST00000652672.2:c.4522A>G ENSP00000498906.2:p.Arg1508Gly
ENST00000484087.6:c.1225A>G ENSP00000419481.2:p.Arg409Gly
ENST00000700182.1:c.1270A>G ENSP00000514849.1:p.Arg424Gly
ENST00000357654.9:c.4663A>G MANE Select ENSP00000350283.3:p.Arg1555Gly
ENST00000471181.7:c.4726A>G ENSP00000418960.2:p.Arg1576Gly
ENST00000644379.1:c.1050A>G
ENST00000352993.7:c.1237A>G ENSP00000312236.5:p.Arg413Gly
ENST00000357654.7:c.4663A>G ENSP00000350283.3:p.Arg1555Gly
ENST00000461221.5:c.*4446A>G ENSP00000418548.1:n.*4446A>G
ENST00000468300.5:c.1351A>G ENSP00000417148.1:p.Arg451Gly
ENST00000471181.6:c.4726A>G ENSP00000418960.2:p.Arg1576Gly
ENST00000478531.5:c.1351A>G ENSP00000420412.1:p.Arg451Gly
ENST00000484087.5:c.976A>G ENSP00000419481.1:p.Arg326Gly
ENST00000491747.6:c.1351A>G ENSP00000420705.2:p.Arg451Gly
ENST00000493795.5:c.4522A>G ENSP00000418775.1:p.Arg1508Gly
ENST00000493919.5:c.1213A>G ENSP00000418819.1:p.Arg405Gly
ENST00000586385.5:c.5-10392A>G ENSP00000465818.1:n.5-10392A>G
ENST00000591534.5:c.136A>G ENSP00000467329.1:p.Arg46Gly
ENST00000591849.5:c.-98-24153A>G ENSP00000465347.1:n.-98-24153A>G
NM_007294.3:c.4663A>G , LRG_292t1:c.4663A>G NP_009225.1:p.Arg1555Gly
NM_007297.3:c.4522A>G NP_009228.2:p.Arg1508Gly
NM_007298.3:c.1351A>G NP_009229.2:p.Arg451Gly
NM_007299.3:c.1351A>G NP_009230.2:p.Arg451Gly
NM_007300.3:c.4726A>G NP_009231.2:p.Arg1576Gly
NR_027676.1:n.4799A>G
NM_007294.4:c.4663A>G MANE Select NP_009225.1:p.Arg1555Gly
NM_007297.4:c.4522A>G NP_009228.2:p.Arg1508Gly
NM_007299.4:c.1351A>G NP_009230.2:p.Arg451Gly
NM_007300.4:c.4726A>G NP_009231.2:p.Arg1576Gly
NR_027676.2:n.4840A>G