Canonical Allele Identifier: CA6171224
Community Standard Title: NM_001258392.3(CLPB):c.1287C>T (p.Ala429=)
Gene: CLPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72301845G>A , CM000673.2:g.72301845G>A GRCh38
NC_000011.9:g.72012889G>A , CM000673.1:g.72012889G>A GRCh37
NC_000011.8:g.71690537G>A NCBI36
NG_042130.1:g.137840C>T
NG_042130.2:g.137840C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001258392.3:c.1287C>T MANE Select NP_001245321.1:p.Ala429=
ENST00000538039.6:c.1287C>T MANE Select ENSP00000441518.1:p.Ala429=
NM_030813.6:c.1377C>T MANE Plus Clinical NP_110440.1:p.Ala459=
ENST00000294053.9:c.1377C>T MANE Plus Clinical ENSP00000294053.3:p.Ala459=
NM_001258392.1:c.1287C>T NP_001245321.1:p.Ala429=
NM_001258392.2:c.1287C>T NP_001245321.1:p.Ala429=
NM_001258393.1:c.1200C>T NP_001245322.1:p.Ala400=
NM_001258393.2:c.1200C>T NP_001245322.1:p.Ala400=
NM_001258393.3:c.1200C>T NP_001245322.1:p.Ala400=
NM_001258394.1:c.1242C>T NP_001245323.1:p.Ala414=
NM_001258394.2:c.1242C>T NP_001245323.1:p.Ala414=
NM_001258394.3:c.1242C>T NP_001245323.1:p.Ala414=
NM_030813.4:c.1377C>T NP_110440.1:p.Ala459=
NM_030813.5:c.1377C>T NP_110440.1:p.Ala459=
ENST00000294053.7:c.1377C>T ENSP00000294053.3:p.Ala459=
ENST00000340729.9:c.1200C>T ENSP00000340385.5:p.Ala400=
ENST00000437826.6:c.1242C>T ENSP00000407296.2:p.Ala414=
ENST00000535477.5:c.1287C>T ENSP00000440423.1:p.Ala429=
ENST00000535477.6:c.*712C>T ENSP00000440423.2:n.*712C>T
ENST00000535990.5:c.1392C>T ENSP00000443822.1:p.Ala464=
ENST00000535990.6:c.*977C>T ENSP00000443822.2:n.*977C>T
ENST00000538021.5:c.304C>T ENSP00000445180.2:n.304C>T
ENST00000538039.5:c.1287C>T ENSP00000441518.1:p.Ala429=
ENST00000543042.5:c.774C>T ENSP00000439746.1:p.Ala258=
ENST00000543042.6:c.1332C>T ENSP00000439746.2:p.Ala444=
ENST00000544382.5:n.710C>T
ENST00000642187.1:c.795C>T ENSP00000494594.1:n.795C>T
ENST00000642288.1:c.774C>T ENSP00000495167.1:p.Ala258=
ENST00000645105.1:n.705C>T
ENST00000646359.1:n.465C>T
ENST00000695924.1:n.1358C>T
ENST00000695925.1:n.1697C>T
XM_005274320.1:c.1290C>T XP_005274377.1:p.Ala430=
XM_011545288.1:c.1332C>T XP_011543590.1:p.Ala444=
XR_950282.1:n.1728-294G>A
XR_950283.1:n.1728-767G>A