Canonical Allele Identifier: CA381726552
Community Standard Title: NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln)
Gene: CLPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72294413C>T , CM000673.2:g.72294413C>T GRCh38
NC_000011.9:g.72005457C>T , CM000673.1:g.72005457C>T GRCh37
NC_000011.8:g.71683105C>T NCBI36
NG_042130.1:g.145272G>A
NG_042130.2:g.145272G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001258392.3:c.1592G>A MANE Select NP_001245321.1:p.Arg531Gln
ENST00000538039.6:c.1592G>A MANE Select ENSP00000441518.1:p.Arg531Gln
NM_030813.6:c.1682G>A MANE Plus Clinical NP_110440.1:p.Arg561Gln
ENST00000294053.9:c.1682G>A MANE Plus Clinical ENSP00000294053.3:p.Arg561Gln
NM_001258392.1:c.1592G>A NP_001245321.1:p.Arg531Gln
NM_001258392.2:c.1592G>A NP_001245321.1:p.Arg531Gln
NM_001258393.1:c.1505G>A NP_001245322.1:p.Arg502Gln
NM_001258393.2:c.1505G>A NP_001245322.1:p.Arg502Gln
NM_001258393.3:c.1505G>A NP_001245322.1:p.Arg502Gln
NM_001258394.1:c.1547G>A NP_001245323.1:p.Arg516Gln
NM_001258394.2:c.1547G>A NP_001245323.1:p.Arg516Gln
NM_001258394.3:c.1547G>A NP_001245323.1:p.Arg516Gln
NM_030813.4:c.1682G>A NP_110440.1:p.Arg561Gln
NM_030813.5:c.1682G>A NP_110440.1:p.Arg561Gln
ENST00000294053.7:c.1682G>A ENSP00000294053.3:p.Arg561Gln
ENST00000340729.9:c.1505G>A ENSP00000340385.5:p.Arg502Gln
ENST00000437826.6:c.1547G>A ENSP00000407296.2:p.Arg516Gln
ENST00000535477.5:c.*12G>A ENSP00000440423.1:n.*12G>A
ENST00000535477.6:c.*1017G>A ENSP00000440423.2:n.*1017G>A
ENST00000535990.5:c.1697G>A ENSP00000443822.1:p.Arg566Gln
ENST00000535990.6:c.*1282G>A ENSP00000443822.2:n.*1282G>A
ENST00000538021.5:c.609G>A ENSP00000445180.2:n.609G>A
ENST00000538039.5:c.1592G>A ENSP00000441518.1:p.Arg531Gln
ENST00000543042.5:c.1079G>A ENSP00000439746.1:p.Arg360Gln
ENST00000543042.6:c.1637G>A ENSP00000439746.2:p.Arg546Gln
ENST00000642187.1:c.1100G>A ENSP00000494594.1:n.1100G>A
ENST00000642288.1:c.1079G>A ENSP00000495167.1:p.Arg360Gln
ENST00000645105.1:n.1010G>A
ENST00000646359.1:n.770G>A
ENST00000695924.1:n.2461G>A
ENST00000695925.1:n.2975G>A
XM_005274320.1:c.1595G>A XP_005274377.1:p.Arg532Gln
XM_011545288.1:c.1637G>A XP_011543590.1:p.Arg546Gln