Canonical Allele Identifier: CA6171068
Gene: CLPB HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72294125G>T , CM000673.2:g.72294125G>T GRCh38
NC_000011.9:g.72005169G>T , CM000673.1:g.72005169G>T GRCh37
NC_000011.8:g.71682817G>T NCBI36
NG_042130.1:g.145560C>A
NG_042130.2:g.145560C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000535990.6:c.*1372C>A ENSP00000443822.2:n.*1372C>A
ENST00000695924.1:n.2551C>A
ENST00000695925.1:n.3263C>A
ENST00000294053.9:c.1772C>A MANE Plus Clinical ENSP00000294053.3:p.Ala591Asp
ENST00000535477.6:c.*1107C>A ENSP00000440423.2:n.*1107C>A
ENST00000538039.6:c.1682C>A MANE Select ENSP00000441518.1:p.Ala561Asp
ENST00000543042.6:c.1727C>A ENSP00000439746.2:p.Ala576Asp
ENST00000642187.1:c.1190C>A ENSP00000494594.1:n.1190C>A
ENST00000645105.1:n.1100C>A
ENST00000646359.1:n.860C>A
ENST00000294053.7:c.1772C>A ENSP00000294053.3:p.Ala591Asp
ENST00000340729.9:c.1595C>A ENSP00000340385.5:p.Ala532Asp
ENST00000437826.6:c.1637C>A ENSP00000407296.2:p.Ala546Asp
ENST00000535477.5:c.*102C>A ENSP00000440423.1:n.*102C>A
ENST00000535990.5:c.1787C>A ENSP00000443822.1:p.Ala596Asp
ENST00000538021.5:c.699C>A ENSP00000445180.2:n.699C>A
ENST00000538039.5:c.1682C>A ENSP00000441518.1:p.Ala561Asp
ENST00000543042.5:c.1169C>A ENSP00000439746.1:p.Ala390Asp
NM_001258392.1:c.1682C>A NP_001245321.1:p.Ala561Asp
NM_001258392.2:c.1682C>A NP_001245321.1:p.Ala561Asp
NM_001258393.1:c.1595C>A NP_001245322.1:p.Ala532Asp
NM_001258393.2:c.1595C>A NP_001245322.1:p.Ala532Asp
NM_001258394.1:c.1637C>A NP_001245323.1:p.Ala546Asp
NM_001258394.2:c.1637C>A NP_001245323.1:p.Ala546Asp
NM_030813.4:c.1772C>A NP_110440.1:p.Ala591Asp
NM_030813.5:c.1772C>A NP_110440.1:p.Ala591Asp
XM_005274320.1:c.1685C>A XP_005274377.1:p.Ala562Asp
XM_011545288.1:c.1727C>A XP_011543590.1:p.Ala576Asp
NM_001258392.3:c.1682C>A MANE Select NP_001245321.1:p.Ala561Asp
NM_001258393.3:c.1595C>A NP_001245322.1:p.Ala532Asp
NM_030813.6:c.1772C>A MANE Plus Clinical NP_110440.1:p.Ala591Asp
NM_001258394.3:c.1637C>A NP_001245323.1:p.Ala546Asp