Canonical Allele Identifier: CA349408207
Community Standard Title: NM_001267550.2(TTN):c.105655C>T (p.Gln35219Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530960G>A , CM000664.2:g.178530960G>A GRCh38
NC_000002.11:g.179395687G>A , CM000664.1:g.179395687G>A GRCh37
NC_000002.10:g.179103933G>A NCBI36
NG_011618.3:g.304843C>T , LRG_391:g.304843C>T
NG_051363.1:g.13134G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.105655C>T (TTN) MANE Select NP_001254479.2:p.Gln35219Ter
ENST00000589042.5:c.105655C>T (TTN) MANE Select ENSP00000467141.1:p.Gln35219Ter
NM_001256850.1:c.100732C>T (TTN) NP_001243779.1:p.Gln33578Ter
NM_003319.4:c.78460C>T (TTN) NP_003310.4:p.Gln26154Ter
NM_133378.4:c.97951C>T (TTN) NP_596869.4:p.Gln32651Ter
NM_133432.3:c.78835C>T (TTN) NP_597676.3:p.Gln26279Ter
NM_133437.4:c.79036C>T (TTN) NP_597681.4:p.Gln26346Ter
NR_038271.1:n.446+7324G>A (TTN-AS1)
NR_038272.1:n.220-4772G>A (TTN-AS1)
ENST00000342175.10:c.79036C>T (TTN) ENSP00000340554.6:p.Gln26346Ter
ENST00000342175.11:c.79036C>T (TTN) ENSP00000340554.6:p.Gln26346Ter
ENST00000342992.10:c.97951C>T (TTN) ENSP00000343764.6:p.Gln32651Ter
ENST00000342992.11:c.97951C>T (TTN) ENSP00000343764.6:p.Gln32651Ter
ENST00000359218.10:c.78835C>T (TTN) ENSP00000352154.5:p.Gln26279Ter
ENST00000359218.9:c.78835C>T (TTN) ENSP00000352154.5:p.Gln26279Ter
ENST00000460472.6:c.78460C>T (TTN) ENSP00000434586.1:p.Gln26154Ter
ENST00000591111.5:c.100732C>T (TTN) ENSP00000465570.1:p.Gln33578Ter
ENST00000615779.4:c.100732C>T (TTN) ENSP00000483597.1:p.Gln33578Ter
XM_011511729.1:c.104752C>T (TTN) XP_011510031.1:p.Gln34918Ter
XM_011511730.1:c.78646C>T (TTN) XP_011510032.1:p.Gln26216Ter
XM_011511731.1:c.78505C>T (TTN) XP_011510033.1:p.Gln26169Ter
XM_017004819.1:c.104548C>T (TTN) XP_016860308.1:p.Gln34850Ter
XM_017004820.1:c.99946C>T (TTN) XP_016860309.1:p.Gln33316Ter
XM_017004821.1:c.99943C>T (TTN) XP_016860310.1:p.Gln33315Ter
XM_017004822.1:c.96985C>T (TTN) XP_016860311.1:p.Gln32329Ter
XM_017004823.1:c.78601C>T (TTN) XP_016860312.1:p.Gln26201Ter
XM_024453094.1:c.100096C>T (TTN) XP_024308862.1:p.Gln33366Ter
XM_024453095.1:c.100093C>T (TTN) XP_024308863.1:p.Gln33365Ter
XM_024453096.1:c.99526C>T (TTN) XP_024308864.1:p.Gln33176Ter
XM_024453097.1:c.96868C>T (TTN) XP_024308865.1:p.Gln32290Ter
XM_024453098.1:c.96787C>T (TTN) XP_024308866.1:p.Gln32263Ter
XM_024453099.1:c.78550C>T (TTN) XP_024308867.1:p.Gln26184Ter
XM_024453100.1:c.68404C>T (TTN) XP_024308868.1:p.Gln22802Ter