Canonical Allele Identifier: CA349414238
Community Standard Title: NM_001267550.2(TTN):c.103453G>T (p.Glu34485Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533162C>A , CM000664.2:g.178533162C>A GRCh38
NC_000002.11:g.179397889C>A , CM000664.1:g.179397889C>A GRCh37
NC_000002.10:g.179106135C>A NCBI36
NG_011618.3:g.302641G>T , LRG_391:g.302641G>T
NG_051363.1:g.15336C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.103453G>T (TTN) MANE Select NP_001254479.2:p.Glu34485Ter
ENST00000589042.5:c.103453G>T (TTN) MANE Select ENSP00000467141.1:p.Glu34485Ter
NM_001256850.1:c.98530G>T (TTN) NP_001243779.1:p.Glu32844Ter
NM_003319.4:c.76258G>T (TTN) NP_003310.4:p.Glu25420Ter
NM_133378.4:c.95749G>T (TTN) NP_596869.4:p.Glu31917Ter
NM_133432.3:c.76633G>T (TTN) NP_597676.3:p.Glu25545Ter
NM_133437.4:c.76834G>T (TTN) NP_597681.4:p.Glu25612Ter
NR_038271.1:n.446+9526C>A (TTN-AS1)
NR_038272.1:n.220-2570C>A (TTN-AS1)
ENST00000342175.10:c.76834G>T (TTN) ENSP00000340554.6:p.Glu25612Ter
ENST00000342175.11:c.76834G>T (TTN) ENSP00000340554.6:p.Glu25612Ter
ENST00000342992.10:c.95749G>T (TTN) ENSP00000343764.6:p.Glu31917Ter
ENST00000342992.11:c.95749G>T (TTN) ENSP00000343764.6:p.Glu31917Ter
ENST00000359218.10:c.76633G>T (TTN) ENSP00000352154.5:p.Glu25545Ter
ENST00000359218.9:c.76633G>T (TTN) ENSP00000352154.5:p.Glu25545Ter
ENST00000460472.6:c.76258G>T (TTN) ENSP00000434586.1:p.Glu25420Ter
ENST00000591111.5:c.98530G>T (TTN) ENSP00000465570.1:p.Glu32844Ter
ENST00000615779.4:c.98530G>T (TTN) ENSP00000483597.1:p.Glu32844Ter
XM_011511729.1:c.102550G>T (TTN) XP_011510031.1:p.Glu34184Ter
XM_011511730.1:c.76444G>T (TTN) XP_011510032.1:p.Glu25482Ter
XM_011511731.1:c.76303G>T (TTN) XP_011510033.1:p.Glu25435Ter
XM_017004819.1:c.102346G>T (TTN) XP_016860308.1:p.Glu34116Ter
XM_017004820.1:c.97744G>T (TTN) XP_016860309.1:p.Glu32582Ter
XM_017004821.1:c.97741G>T (TTN) XP_016860310.1:p.Glu32581Ter
XM_017004822.1:c.94783G>T (TTN) XP_016860311.1:p.Glu31595Ter
XM_017004823.1:c.76399G>T (TTN) XP_016860312.1:p.Glu25467Ter
XM_024453094.1:c.97894G>T (TTN) XP_024308862.1:p.Glu32632Ter
XM_024453095.1:c.97891G>T (TTN) XP_024308863.1:p.Glu32631Ter
XM_024453096.1:c.97324G>T (TTN) XP_024308864.1:p.Glu32442Ter
XM_024453097.1:c.94666G>T (TTN) XP_024308865.1:p.Glu31556Ter
XM_024453098.1:c.94585G>T (TTN) XP_024308866.1:p.Glu31529Ter
XM_024453099.1:c.76348G>T (TTN) XP_024308867.1:p.Glu25450Ter
XM_024453100.1:c.66202G>T (TTN) XP_024308868.1:p.Glu22068Ter