Canonical Allele Identifier: CA60954275
Community Standard Title: NM_001267550.2(TTN):c.104947C>T (p.Gln34983Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531668G>A , CM000664.2:g.178531668G>A GRCh38
NC_000002.11:g.179396395G>A , CM000664.1:g.179396395G>A GRCh37
NC_000002.10:g.179104641G>A NCBI36
NG_011618.3:g.304135C>T , LRG_391:g.304135C>T
NG_051363.1:g.13842G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.104947C>T (TTN) MANE Select NP_001254479.2:p.Gln34983Ter
ENST00000589042.5:c.104947C>T (TTN) MANE Select ENSP00000467141.1:p.Gln34983Ter
NM_001256850.1:c.100024C>T (TTN) NP_001243779.1:p.Gln33342Ter
NM_003319.4:c.77752C>T (TTN) NP_003310.4:p.Gln25918Ter
NM_133378.4:c.97243C>T (TTN) NP_596869.4:p.Gln32415Ter
NM_133432.3:c.78127C>T (TTN) NP_597676.3:p.Gln26043Ter
NM_133437.4:c.78328C>T (TTN) NP_597681.4:p.Gln26110Ter
NR_038271.1:n.446+8032G>A (TTN-AS1)
NR_038272.1:n.220-4064G>A (TTN-AS1)
ENST00000342175.10:c.78328C>T (TTN) ENSP00000340554.6:p.Gln26110Ter
ENST00000342175.11:c.78328C>T (TTN) ENSP00000340554.6:p.Gln26110Ter
ENST00000342992.10:c.97243C>T (TTN) ENSP00000343764.6:p.Gln32415Ter
ENST00000342992.11:c.97243C>T (TTN) ENSP00000343764.6:p.Gln32415Ter
ENST00000359218.10:c.78127C>T (TTN) ENSP00000352154.5:p.Gln26043Ter
ENST00000359218.9:c.78127C>T (TTN) ENSP00000352154.5:p.Gln26043Ter
ENST00000460472.6:c.77752C>T (TTN) ENSP00000434586.1:p.Gln25918Ter
ENST00000591111.5:c.100024C>T (TTN) ENSP00000465570.1:p.Gln33342Ter
ENST00000615779.4:c.100024C>T (TTN) ENSP00000483597.1:p.Gln33342Ter
XM_011511729.1:c.104044C>T (TTN) XP_011510031.1:p.Gln34682Ter
XM_011511730.1:c.77938C>T (TTN) XP_011510032.1:p.Gln25980Ter
XM_011511731.1:c.77797C>T (TTN) XP_011510033.1:p.Gln25933Ter
XM_017004819.1:c.103840C>T (TTN) XP_016860308.1:p.Gln34614Ter
XM_017004820.1:c.99238C>T (TTN) XP_016860309.1:p.Gln33080Ter
XM_017004821.1:c.99235C>T (TTN) XP_016860310.1:p.Gln33079Ter
XM_017004822.1:c.96277C>T (TTN) XP_016860311.1:p.Gln32093Ter
XM_017004823.1:c.77893C>T (TTN) XP_016860312.1:p.Gln25965Ter
XM_024453094.1:c.99388C>T (TTN) XP_024308862.1:p.Gln33130Ter
XM_024453095.1:c.99385C>T (TTN) XP_024308863.1:p.Gln33129Ter
XM_024453096.1:c.98818C>T (TTN) XP_024308864.1:p.Gln32940Ter
XM_024453097.1:c.96160C>T (TTN) XP_024308865.1:p.Gln32054Ter
XM_024453098.1:c.96079C>T (TTN) XP_024308866.1:p.Gln32027Ter
XM_024453099.1:c.77842C>T (TTN) XP_024308867.1:p.Gln25948Ter
XM_024453100.1:c.67696C>T (TTN) XP_024308868.1:p.Gln22566Ter