Canonical Allele Identifier: CA349662858
Community Standard Title: NM_001267550.2(TTN):c.70501G>T (p.Glu23501Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178575631C>A , CM000664.2:g.178575631C>A GRCh38
NC_000002.11:g.179440358C>A , CM000664.1:g.179440358C>A GRCh37
NC_000002.10:g.179148604C>A NCBI36
NG_011618.3:g.260172G>T , LRG_391:g.260172G>T
NG_051363.1:g.57805C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.70501G>T (TTN) MANE Select NP_001254479.2:p.Glu23501Ter
ENST00000589042.5:c.70501G>T (TTN) MANE Select ENSP00000467141.1:p.Glu23501Ter
NM_001256850.1:c.65578G>T (TTN) NP_001243779.1:p.Glu21860Ter
NM_003319.4:c.43306G>T (TTN) NP_003310.4:p.Glu14436Ter
NM_133378.4:c.62797G>T (TTN) NP_596869.4:p.Glu20933Ter
NM_133432.3:c.43681G>T (TTN) NP_597676.3:p.Glu14561Ter
NM_133437.4:c.43882G>T (TTN) NP_597681.4:p.Glu14628Ter
NR_038271.1:n.596+4182C>A (TTN-AS1)
NR_038272.1:n.2044-6941C>A (TTN-AS1)
ENST00000342175.10:c.43882G>T (TTN) ENSP00000340554.6:p.Glu14628Ter
ENST00000342175.11:c.43882G>T (TTN) ENSP00000340554.6:p.Glu14628Ter
ENST00000342992.10:c.62797G>T (TTN) ENSP00000343764.6:p.Glu20933Ter
ENST00000342992.11:c.62797G>T (TTN) ENSP00000343764.6:p.Glu20933Ter
ENST00000359218.10:c.43681G>T (TTN) ENSP00000352154.5:p.Glu14561Ter
ENST00000359218.9:c.43681G>T (TTN) ENSP00000352154.5:p.Glu14561Ter
ENST00000460472.6:c.43306G>T (TTN) ENSP00000434586.1:p.Glu14436Ter
ENST00000591111.5:c.65578G>T (TTN) ENSP00000465570.1:p.Glu21860Ter
ENST00000615779.4:c.65578G>T (TTN) ENSP00000483597.1:p.Glu21860Ter
XM_011511729.1:c.69598G>T (TTN) XP_011510031.1:p.Glu23200Ter
XM_011511730.1:c.43492G>T (TTN) XP_011510032.1:p.Glu14498Ter
XM_011511731.1:c.43351G>T (TTN) XP_011510033.1:p.Glu14451Ter
XM_017004819.1:c.69394G>T (TTN) XP_016860308.1:p.Glu23132Ter
XM_017004820.1:c.64792G>T (TTN) XP_016860309.1:p.Glu21598Ter
XM_017004821.1:c.64789G>T (TTN) XP_016860310.1:p.Glu21597Ter
XM_017004822.1:c.61831G>T (TTN) XP_016860311.1:p.Glu20611Ter
XM_017004823.1:c.43447G>T (TTN) XP_016860312.1:p.Glu14483Ter
XM_024453094.1:c.64942G>T (TTN) XP_024308862.1:p.Glu21648Ter
XM_024453095.1:c.64939G>T (TTN) XP_024308863.1:p.Glu21647Ter
XM_024453096.1:c.64372G>T (TTN) XP_024308864.1:p.Glu21458Ter
XM_024453097.1:c.61714G>T (TTN) XP_024308865.1:p.Glu20572Ter
XM_024453098.1:c.61633G>T (TTN) XP_024308866.1:p.Glu20545Ter
XM_024453099.1:c.43396G>T (TTN) XP_024308867.1:p.Glu14466Ter
XM_024453100.1:c.33250G>T (TTN) XP_024308868.1:p.Glu11084Ter