Canonical Allele Identifier: CA1986985
Community Standard Title: NM_001267550.2(TTN):c.95232C>T (p.Ile31744=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546004G>A , CM000664.2:g.178546004G>A GRCh38
NC_000002.11:g.179410731G>A , CM000664.1:g.179410731G>A GRCh37
NC_000002.10:g.179118977G>A NCBI36
NG_011618.3:g.289799C>T , LRG_391:g.289799C>T
NG_051363.1:g.28178G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.95232C>T (TTN) MANE Select NP_001254479.2:p.Ile31744=
ENST00000589042.5:c.95232C>T (TTN) MANE Select ENSP00000467141.1:p.Ile31744=
NM_001256850.1:c.90309C>T (TTN) NP_001243779.1:p.Ile30103=
NM_003319.4:c.68037C>T (TTN) NP_003310.4:p.Ile22679=
NM_133378.4:c.87528C>T (TTN) NP_596869.4:p.Ile29176=
NM_133432.3:c.68412C>T (TTN) NP_597676.3:p.Ile22804=
NM_133437.4:c.68613C>T (TTN) NP_597681.4:p.Ile22871=
NR_038271.1:n.446+22368G>A (TTN-AS1)
NR_038272.1:n.2043+3643G>A (TTN-AS1)
ENST00000342175.10:c.68613C>T (TTN) ENSP00000340554.6:p.Ile22871=
ENST00000342175.11:c.68613C>T (TTN) ENSP00000340554.6:p.Ile22871=
ENST00000342992.10:c.87528C>T (TTN) ENSP00000343764.6:p.Ile29176=
ENST00000342992.11:c.87528C>T (TTN) ENSP00000343764.6:p.Ile29176=
ENST00000359218.10:c.68412C>T (TTN) ENSP00000352154.5:p.Ile22804=
ENST00000359218.9:c.68412C>T (TTN) ENSP00000352154.5:p.Ile22804=
ENST00000460472.6:c.68037C>T (TTN) ENSP00000434586.1:p.Ile22679=
ENST00000591111.5:c.90309C>T (TTN) ENSP00000465570.1:p.Ile30103=
ENST00000615779.4:c.90309C>T (TTN) ENSP00000483597.1:p.Ile30103=
XM_011511729.1:c.94329C>T (TTN) XP_011510031.1:p.Ile31443=
XM_011511730.1:c.68223C>T (TTN) XP_011510032.1:p.Ile22741=
XM_011511731.1:c.68082C>T (TTN) XP_011510033.1:p.Ile22694=
XM_017004819.1:c.94125C>T (TTN) XP_016860308.1:p.Ile31375=
XM_017004820.1:c.89523C>T (TTN) XP_016860309.1:p.Ile29841=
XM_017004821.1:c.89520C>T (TTN) XP_016860310.1:p.Ile29840=
XM_017004822.1:c.86562C>T (TTN) XP_016860311.1:p.Ile28854=
XM_017004823.1:c.68178C>T (TTN) XP_016860312.1:p.Ile22726=
XM_024453094.1:c.89673C>T (TTN) XP_024308862.1:p.Ile29891=
XM_024453095.1:c.89670C>T (TTN) XP_024308863.1:p.Ile29890=
XM_024453096.1:c.89103C>T (TTN) XP_024308864.1:p.Ile29701=
XM_024453097.1:c.86445C>T (TTN) XP_024308865.1:p.Ile28815=
XM_024453098.1:c.86364C>T (TTN) XP_024308866.1:p.Ile28788=
XM_024453099.1:c.68127C>T (TTN) XP_024308867.1:p.Ile22709=
XM_024453100.1:c.57981C>T (TTN) XP_024308868.1:p.Ile19327=