Canonical Allele Identifier: CA349430772
Community Standard Title: NM_001267550.2(TTN):c.99181G>T (p.Gly33061Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178538648C>A , CM000664.2:g.178538648C>A GRCh38
NC_000002.11:g.179403375C>A , CM000664.1:g.179403375C>A GRCh37
NC_000002.10:g.179111621C>A NCBI36
NG_011618.3:g.297155G>T , LRG_391:g.297155G>T
NG_051363.1:g.20822C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.99181G>T (TTN) MANE Select NP_001254479.2:p.Gly33061Ter
ENST00000589042.5:c.99181G>T (TTN) MANE Select ENSP00000467141.1:p.Gly33061Ter
NM_001256850.1:c.94258G>T (TTN) NP_001243779.1:p.Gly31420Ter
NM_003319.4:c.71986G>T (TTN) NP_003310.4:p.Gly23996Ter
NM_133378.4:c.91477G>T (TTN) NP_596869.4:p.Gly30493Ter
NM_133432.3:c.72361G>T (TTN) NP_597676.3:p.Gly24121Ter
NM_133437.4:c.72562G>T (TTN) NP_597681.4:p.Gly24188Ter
NR_038271.1:n.446+15012C>A (TTN-AS1)
NR_038272.1:n.648-50C>A (TTN-AS1)
ENST00000342175.10:c.72562G>T (TTN) ENSP00000340554.6:p.Gly24188Ter
ENST00000342175.11:c.72562G>T (TTN) ENSP00000340554.6:p.Gly24188Ter
ENST00000342992.10:c.91477G>T (TTN) ENSP00000343764.6:p.Gly30493Ter
ENST00000342992.11:c.91477G>T (TTN) ENSP00000343764.6:p.Gly30493Ter
ENST00000359218.10:c.72361G>T (TTN) ENSP00000352154.5:p.Gly24121Ter
ENST00000359218.9:c.72361G>T (TTN) ENSP00000352154.5:p.Gly24121Ter
ENST00000460472.6:c.71986G>T (TTN) ENSP00000434586.1:p.Gly23996Ter
ENST00000591111.5:c.94258G>T (TTN) ENSP00000465570.1:p.Gly31420Ter
ENST00000615779.4:c.94258G>T (TTN) ENSP00000483597.1:p.Gly31420Ter
XM_011511729.1:c.98278G>T (TTN) XP_011510031.1:p.Gly32760Ter
XM_011511730.1:c.72172G>T (TTN) XP_011510032.1:p.Gly24058Ter
XM_011511731.1:c.72031G>T (TTN) XP_011510033.1:p.Gly24011Ter
XM_017004819.1:c.98074G>T (TTN) XP_016860308.1:p.Gly32692Ter
XM_017004820.1:c.93472G>T (TTN) XP_016860309.1:p.Gly31158Ter
XM_017004821.1:c.93469G>T (TTN) XP_016860310.1:p.Gly31157Ter
XM_017004822.1:c.90511G>T (TTN) XP_016860311.1:p.Gly30171Ter
XM_017004823.1:c.72127G>T (TTN) XP_016860312.1:p.Gly24043Ter
XM_024453094.1:c.93622G>T (TTN) XP_024308862.1:p.Gly31208Ter
XM_024453095.1:c.93619G>T (TTN) XP_024308863.1:p.Gly31207Ter
XM_024453096.1:c.93052G>T (TTN) XP_024308864.1:p.Gly31018Ter
XM_024453097.1:c.90394G>T (TTN) XP_024308865.1:p.Gly30132Ter
XM_024453098.1:c.90313G>T (TTN) XP_024308866.1:p.Gly30105Ter
XM_024453099.1:c.72076G>T (TTN) XP_024308867.1:p.Gly24026Ter
XM_024453100.1:c.61930G>T (TTN) XP_024308868.1:p.Gly20644Ter