Canonical Allele Identifier: CA349419837
Community Standard Title: NM_001267550.2(TTN):c.101704G>T (p.Glu33902Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534911C>A , CM000664.2:g.178534911C>A GRCh38
NC_000002.11:g.179399638C>A , CM000664.1:g.179399638C>A GRCh37
NC_000002.10:g.179107884C>A NCBI36
NG_011618.3:g.300892G>T , LRG_391:g.300892G>T
NG_051363.1:g.17085C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.101704G>T (TTN) MANE Select NP_001254479.2:p.Glu33902Ter
ENST00000589042.5:c.101704G>T (TTN) MANE Select ENSP00000467141.1:p.Glu33902Ter
NM_001256850.1:c.96781G>T (TTN) NP_001243779.1:p.Glu32261Ter
NM_003319.4:c.74509G>T (TTN) NP_003310.4:p.Glu24837Ter
NM_133378.4:c.94000G>T (TTN) NP_596869.4:p.Glu31334Ter
NM_133432.3:c.74884G>T (TTN) NP_597676.3:p.Glu24962Ter
NM_133437.4:c.75085G>T (TTN) NP_597681.4:p.Glu25029Ter
NR_038271.1:n.446+11275C>A (TTN-AS1)
NR_038272.1:n.220-821C>A (TTN-AS1)
ENST00000342175.10:c.75085G>T (TTN) ENSP00000340554.6:p.Glu25029Ter
ENST00000342175.11:c.75085G>T (TTN) ENSP00000340554.6:p.Glu25029Ter
ENST00000342992.10:c.94000G>T (TTN) ENSP00000343764.6:p.Glu31334Ter
ENST00000342992.11:c.94000G>T (TTN) ENSP00000343764.6:p.Glu31334Ter
ENST00000359218.10:c.74884G>T (TTN) ENSP00000352154.5:p.Glu24962Ter
ENST00000359218.9:c.74884G>T (TTN) ENSP00000352154.5:p.Glu24962Ter
ENST00000460472.6:c.74509G>T (TTN) ENSP00000434586.1:p.Glu24837Ter
ENST00000591111.5:c.96781G>T (TTN) ENSP00000465570.1:p.Glu32261Ter
ENST00000615779.4:c.96781G>T (TTN) ENSP00000483597.1:p.Glu32261Ter
XM_011511729.1:c.100801G>T (TTN) XP_011510031.1:p.Glu33601Ter
XM_011511730.1:c.74695G>T (TTN) XP_011510032.1:p.Glu24899Ter
XM_011511731.1:c.74554G>T (TTN) XP_011510033.1:p.Glu24852Ter
XM_017004819.1:c.100597G>T (TTN) XP_016860308.1:p.Glu33533Ter
XM_017004820.1:c.95995G>T (TTN) XP_016860309.1:p.Glu31999Ter
XM_017004821.1:c.95992G>T (TTN) XP_016860310.1:p.Glu31998Ter
XM_017004822.1:c.93034G>T (TTN) XP_016860311.1:p.Glu31012Ter
XM_017004823.1:c.74650G>T (TTN) XP_016860312.1:p.Glu24884Ter
XM_024453094.1:c.96145G>T (TTN) XP_024308862.1:p.Glu32049Ter
XM_024453095.1:c.96142G>T (TTN) XP_024308863.1:p.Glu32048Ter
XM_024453096.1:c.95575G>T (TTN) XP_024308864.1:p.Glu31859Ter
XM_024453097.1:c.92917G>T (TTN) XP_024308865.1:p.Glu30973Ter
XM_024453098.1:c.92836G>T (TTN) XP_024308866.1:p.Glu30946Ter
XM_024453099.1:c.74599G>T (TTN) XP_024308867.1:p.Glu24867Ter
XM_024453100.1:c.64453G>T (TTN) XP_024308868.1:p.Glu21485Ter