Canonical Allele Identifier: CA6171227
Community Standard Title: NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser)
Gene: CLPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72301879T>C , CM000673.2:g.72301879T>C GRCh38
NC_000011.9:g.72012923T>C , CM000673.1:g.72012923T>C GRCh37
NC_000011.8:g.71690571T>C NCBI36
NG_042130.1:g.137806A>G
NG_042130.2:g.137806A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001258392.3:c.1253A>G MANE Select NP_001245321.1:p.Asn418Ser
ENST00000538039.6:c.1253A>G MANE Select ENSP00000441518.1:p.Asn418Ser
NM_030813.6:c.1343A>G MANE Plus Clinical NP_110440.1:p.Asn448Ser
ENST00000294053.9:c.1343A>G MANE Plus Clinical ENSP00000294053.3:p.Asn448Ser
NM_001258392.1:c.1253A>G NP_001245321.1:p.Asn418Ser
NM_001258392.2:c.1253A>G NP_001245321.1:p.Asn418Ser
NM_001258393.1:c.1166A>G NP_001245322.1:p.Asn389Ser
NM_001258393.2:c.1166A>G NP_001245322.1:p.Asn389Ser
NM_001258393.3:c.1166A>G NP_001245322.1:p.Asn389Ser
NM_001258394.1:c.1208A>G NP_001245323.1:p.Asn403Ser
NM_001258394.2:c.1208A>G NP_001245323.1:p.Asn403Ser
NM_001258394.3:c.1208A>G NP_001245323.1:p.Asn403Ser
NM_030813.4:c.1343A>G NP_110440.1:p.Asn448Ser
NM_030813.5:c.1343A>G NP_110440.1:p.Asn448Ser
ENST00000294053.7:c.1343A>G ENSP00000294053.3:p.Asn448Ser
ENST00000340729.9:c.1166A>G ENSP00000340385.5:p.Asn389Ser
ENST00000437826.6:c.1208A>G ENSP00000407296.2:p.Asn403Ser
ENST00000535477.5:c.1253A>G ENSP00000440423.1:p.Asn418Ser
ENST00000535477.6:c.*678A>G ENSP00000440423.2:n.*678A>G
ENST00000535990.5:c.1358A>G ENSP00000443822.1:p.Asn453Ser
ENST00000535990.6:c.*943A>G ENSP00000443822.2:n.*943A>G
ENST00000538021.5:c.270A>G ENSP00000445180.2:n.270A>G
ENST00000538039.5:c.1253A>G ENSP00000441518.1:p.Asn418Ser
ENST00000543042.5:c.740A>G ENSP00000439746.1:p.Asn247Ser
ENST00000543042.6:c.1298A>G ENSP00000439746.2:p.Asn433Ser
ENST00000544382.5:n.676A>G
ENST00000642187.1:c.761A>G ENSP00000494594.1:n.761A>G
ENST00000642288.1:c.740A>G ENSP00000495167.1:p.Asn247Ser
ENST00000645105.1:n.671A>G
ENST00000646359.1:n.431A>G
ENST00000695924.1:n.1324A>G
ENST00000695925.1:n.1663A>G
XM_005274320.1:c.1256A>G XP_005274377.1:p.Asn419Ser
XM_011545288.1:c.1298A>G XP_011543590.1:p.Asn433Ser
XR_950282.1:n.1728-260T>C
XR_950283.1:n.1728-733T>C