Canonical Allele Identifier: CA349417342
Community Standard Title: NM_001267550.2(TTN):c.102526C>T (p.Gln34176Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534089G>A , CM000664.2:g.178534089G>A GRCh38
NC_000002.11:g.179398816G>A , CM000664.1:g.179398816G>A GRCh37
NC_000002.10:g.179107062G>A NCBI36
NG_011618.3:g.301714C>T , LRG_391:g.301714C>T
NG_051363.1:g.16263G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.102526C>T (TTN) MANE Select NP_001254479.2:p.Gln34176Ter
ENST00000589042.5:c.102526C>T (TTN) MANE Select ENSP00000467141.1:p.Gln34176Ter
NM_001256850.1:c.97603C>T (TTN) NP_001243779.1:p.Gln32535Ter
NM_003319.4:c.75331C>T (TTN) NP_003310.4:p.Gln25111Ter
NM_133378.4:c.94822C>T (TTN) NP_596869.4:p.Gln31608Ter
NM_133432.3:c.75706C>T (TTN) NP_597676.3:p.Gln25236Ter
NM_133437.4:c.75907C>T (TTN) NP_597681.4:p.Gln25303Ter
NR_038271.1:n.446+10453G>A (TTN-AS1)
NR_038272.1:n.220-1643G>A (TTN-AS1)
ENST00000342175.10:c.75907C>T (TTN) ENSP00000340554.6:p.Gln25303Ter
ENST00000342175.11:c.75907C>T (TTN) ENSP00000340554.6:p.Gln25303Ter
ENST00000342992.10:c.94822C>T (TTN) ENSP00000343764.6:p.Gln31608Ter
ENST00000342992.11:c.94822C>T (TTN) ENSP00000343764.6:p.Gln31608Ter
ENST00000359218.10:c.75706C>T (TTN) ENSP00000352154.5:p.Gln25236Ter
ENST00000359218.9:c.75706C>T (TTN) ENSP00000352154.5:p.Gln25236Ter
ENST00000460472.6:c.75331C>T (TTN) ENSP00000434586.1:p.Gln25111Ter
ENST00000591111.5:c.97603C>T (TTN) ENSP00000465570.1:p.Gln32535Ter
ENST00000615779.4:c.97603C>T (TTN) ENSP00000483597.1:p.Gln32535Ter
XM_011511729.1:c.101623C>T (TTN) XP_011510031.1:p.Gln33875Ter
XM_011511730.1:c.75517C>T (TTN) XP_011510032.1:p.Gln25173Ter
XM_011511731.1:c.75376C>T (TTN) XP_011510033.1:p.Gln25126Ter
XM_017004819.1:c.101419C>T (TTN) XP_016860308.1:p.Gln33807Ter
XM_017004820.1:c.96817C>T (TTN) XP_016860309.1:p.Gln32273Ter
XM_017004821.1:c.96814C>T (TTN) XP_016860310.1:p.Gln32272Ter
XM_017004822.1:c.93856C>T (TTN) XP_016860311.1:p.Gln31286Ter
XM_017004823.1:c.75472C>T (TTN) XP_016860312.1:p.Gln25158Ter
XM_024453094.1:c.96967C>T (TTN) XP_024308862.1:p.Gln32323Ter
XM_024453095.1:c.96964C>T (TTN) XP_024308863.1:p.Gln32322Ter
XM_024453096.1:c.96397C>T (TTN) XP_024308864.1:p.Gln32133Ter
XM_024453097.1:c.93739C>T (TTN) XP_024308865.1:p.Gln31247Ter
XM_024453098.1:c.93658C>T (TTN) XP_024308866.1:p.Gln31220Ter
XM_024453099.1:c.75421C>T (TTN) XP_024308867.1:p.Gln25141Ter
XM_024453100.1:c.65275C>T (TTN) XP_024308868.1:p.Gln21759Ter