Canonical Allele Identifier: CA349409836
Community Standard Title: NM_001267550.2(TTN):c.104941G>T (p.Glu34981Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531674C>A , CM000664.2:g.178531674C>A GRCh38
NC_000002.11:g.179396401C>A , CM000664.1:g.179396401C>A GRCh37
NC_000002.10:g.179104647C>A NCBI36
NG_011618.3:g.304129G>T , LRG_391:g.304129G>T
NG_051363.1:g.13848C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.104941G>T (TTN) MANE Select NP_001254479.2:p.Glu34981Ter
ENST00000589042.5:c.104941G>T (TTN) MANE Select ENSP00000467141.1:p.Glu34981Ter
NM_001256850.1:c.100018G>T (TTN) NP_001243779.1:p.Glu33340Ter
NM_003319.4:c.77746G>T (TTN) NP_003310.4:p.Glu25916Ter
NM_133378.4:c.97237G>T (TTN) NP_596869.4:p.Glu32413Ter
NM_133432.3:c.78121G>T (TTN) NP_597676.3:p.Glu26041Ter
NM_133437.4:c.78322G>T (TTN) NP_597681.4:p.Glu26108Ter
NR_038271.1:n.446+8038C>A (TTN-AS1)
NR_038272.1:n.220-4058C>A (TTN-AS1)
ENST00000342175.10:c.78322G>T (TTN) ENSP00000340554.6:p.Glu26108Ter
ENST00000342175.11:c.78322G>T (TTN) ENSP00000340554.6:p.Glu26108Ter
ENST00000342992.10:c.97237G>T (TTN) ENSP00000343764.6:p.Glu32413Ter
ENST00000342992.11:c.97237G>T (TTN) ENSP00000343764.6:p.Glu32413Ter
ENST00000359218.10:c.78121G>T (TTN) ENSP00000352154.5:p.Glu26041Ter
ENST00000359218.9:c.78121G>T (TTN) ENSP00000352154.5:p.Glu26041Ter
ENST00000460472.6:c.77746G>T (TTN) ENSP00000434586.1:p.Glu25916Ter
ENST00000591111.5:c.100018G>T (TTN) ENSP00000465570.1:p.Glu33340Ter
ENST00000615779.4:c.100018G>T (TTN) ENSP00000483597.1:p.Glu33340Ter
XM_011511729.1:c.104038G>T (TTN) XP_011510031.1:p.Glu34680Ter
XM_011511730.1:c.77932G>T (TTN) XP_011510032.1:p.Glu25978Ter
XM_011511731.1:c.77791G>T (TTN) XP_011510033.1:p.Glu25931Ter
XM_017004819.1:c.103834G>T (TTN) XP_016860308.1:p.Glu34612Ter
XM_017004820.1:c.99232G>T (TTN) XP_016860309.1:p.Glu33078Ter
XM_017004821.1:c.99229G>T (TTN) XP_016860310.1:p.Glu33077Ter
XM_017004822.1:c.96271G>T (TTN) XP_016860311.1:p.Glu32091Ter
XM_017004823.1:c.77887G>T (TTN) XP_016860312.1:p.Glu25963Ter
XM_024453094.1:c.99382G>T (TTN) XP_024308862.1:p.Glu33128Ter
XM_024453095.1:c.99379G>T (TTN) XP_024308863.1:p.Glu33127Ter
XM_024453096.1:c.98812G>T (TTN) XP_024308864.1:p.Glu32938Ter
XM_024453097.1:c.96154G>T (TTN) XP_024308865.1:p.Glu32052Ter
XM_024453098.1:c.96073G>T (TTN) XP_024308866.1:p.Glu32025Ter
XM_024453099.1:c.77836G>T (TTN) XP_024308867.1:p.Glu25946Ter
XM_024453100.1:c.67690G>T (TTN) XP_024308868.1:p.Glu22564Ter