Canonical Allele Identifier: CA13506086
Community Standard Title: NM_001258392.3(CLPB):c.*173G>C
Gene: CLPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72293194C>G , CM000673.2:g.72293194C>G GRCh38
NC_000011.9:g.72004238C>G , CM000673.1:g.72004238C>G GRCh37
NC_000011.8:g.71681886C>G NCBI36
NG_042130.1:g.146491G>C
NG_042130.2:g.146491G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001258392.3:c.*173G>C MANE Select NP_001245321.1:n.*173G>C
ENST00000538039.6:c.*173G>C MANE Select ENSP00000441518.1:n.*173G>C
NM_030813.6:c.*173G>C MANE Plus Clinical NP_110440.1:n.*173G>C
ENST00000294053.9:c.*173G>C MANE Plus Clinical ENSP00000294053.3:n.*173G>C
NM_001258392.1:c.*173G>C NP_001245321.1:n.*173G>C
NM_001258392.2:c.*173G>C NP_001245321.1:n.*173G>C
NM_001258393.1:c.*173G>C NP_001245322.1:n.*173G>C
NM_001258393.2:c.*173G>C NP_001245322.1:n.*173G>C
NM_001258393.3:c.*173G>C NP_001245322.1:n.*173G>C
NM_001258394.1:c.*173G>C NP_001245323.1:n.*173G>C
NM_001258394.2:c.*173G>C NP_001245323.1:n.*173G>C
NM_001258394.3:c.*173G>C NP_001245323.1:n.*173G>C
NM_030813.4:c.*173G>C NP_110440.1:n.*173G>C
NM_030813.5:c.*173G>C NP_110440.1:n.*173G>C
ENST00000294053.7:c.*173G>C ENSP00000294053.3:n.*173G>C
ENST00000437826.6:c.*173G>C ENSP00000407296.2:n.*173G>C
ENST00000538039.5:c.*173G>C ENSP00000441518.1:n.*173G>C