Canonical Allele Identifier: CA224386477
Community Standard Title: NM_001258392.3(CLPB):c.1330-117C>G
Gene: CLPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72295765G>C , CM000673.2:g.72295765G>C GRCh38
NC_000011.9:g.72006809G>C , CM000673.1:g.72006809G>C GRCh37
NC_000011.8:g.71684457G>C NCBI36
NG_042130.1:g.143920C>G
NG_042130.2:g.143920C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001258392.3:c.1330-117C>G MANE Select NP_001245321.1:n.1330-117C>G
ENST00000538039.6:c.1330-117C>G MANE Select ENSP00000441518.1:n.1330-117C>G
NM_030813.6:c.1420-117C>G MANE Plus Clinical NP_110440.1:n.1420-117C>G
ENST00000294053.9:c.1420-117C>G MANE Plus Clinical ENSP00000294053.3:n.1420-117C>G
NM_001258392.1:c.1330-117C>G NP_001245321.1:n.1330-117C>G
NM_001258392.2:c.1330-117C>G NP_001245321.1:n.1330-117C>G
NM_001258393.1:c.1243-117C>G NP_001245322.1:n.1243-117C>G
NM_001258393.2:c.1243-117C>G NP_001245322.1:n.1243-117C>G
NM_001258393.3:c.1243-117C>G NP_001245322.1:n.1243-117C>G
NM_001258394.1:c.1285-117C>G NP_001245323.1:n.1285-117C>G
NM_001258394.2:c.1285-117C>G NP_001245323.1:n.1285-117C>G
NM_001258394.3:c.1285-117C>G NP_001245323.1:n.1285-117C>G
NM_030813.4:c.1420-117C>G NP_110440.1:n.1420-117C>G
NM_030813.5:c.1420-117C>G NP_110440.1:n.1420-117C>G
ENST00000294053.7:c.1420-117C>G ENSP00000294053.3:n.1420-117C>G
ENST00000340729.9:c.1243-117C>G ENSP00000340385.5:n.1243-117C>G
ENST00000437826.6:c.1285-117C>G ENSP00000407296.2:n.1285-117C>G
ENST00000535477.5:c.1330-117C>G ENSP00000440423.1:n.1330-117C>G
ENST00000535477.6:c.*755-117C>G ENSP00000440423.2:n.*755-117C>G
ENST00000535990.5:c.1435-117C>G ENSP00000443822.1:n.1435-117C>G
ENST00000535990.6:c.*1020-117C>G ENSP00000443822.2:n.*1020-117C>G
ENST00000538021.5:c.347-117C>G ENSP00000445180.2:n.347-117C>G
ENST00000538039.5:c.1330-117C>G ENSP00000441518.1:n.1330-117C>G
ENST00000543042.5:c.817-117C>G ENSP00000439746.1:n.817-117C>G
ENST00000543042.6:c.1375-117C>G ENSP00000439746.2:n.1375-117C>G
ENST00000544382.5:n.753-117C>G
ENST00000642187.1:c.838-117C>G ENSP00000494594.1:n.838-117C>G
ENST00000642288.1:c.817-117C>G ENSP00000495167.1:n.817-117C>G
ENST00000645105.1:n.748-117C>G
ENST00000646359.1:n.508-117C>G
ENST00000695924.1:n.1401-117C>G
ENST00000695925.1:n.1740-117C>G
XM_005274320.1:c.1333-117C>G XP_005274377.1:n.1333-117C>G
XM_011545288.1:c.1375-117C>G XP_011543590.1:n.1375-117C>G