Canonical Allele Identifier: CA349421380
Community Standard Title: NM_001267550.2(TTN):c.101187T>A (p.Cys33729Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178535428A>T , CM000664.2:g.178535428A>T GRCh38
NC_000002.11:g.179400155A>T , CM000664.1:g.179400155A>T GRCh37
NC_000002.10:g.179108401A>T NCBI36
NG_011618.3:g.300375T>A , LRG_391:g.300375T>A
NG_051363.1:g.17602A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.101187T>A (TTN) MANE Select NP_001254479.2:p.Cys33729Ter
ENST00000589042.5:c.101187T>A (TTN) MANE Select ENSP00000467141.1:p.Cys33729Ter
NM_001256850.1:c.96264T>A (TTN) NP_001243779.1:p.Cys32088Ter
NM_003319.4:c.73992T>A (TTN) NP_003310.4:p.Cys24664Ter
NM_133378.4:c.93483T>A (TTN) NP_596869.4:p.Cys31161Ter
NM_133432.3:c.74367T>A (TTN) NP_597676.3:p.Cys24789Ter
NM_133437.4:c.74568T>A (TTN) NP_597681.4:p.Cys24856Ter
NR_038271.1:n.446+11792A>T (TTN-AS1)
NR_038272.1:n.220-304A>T (TTN-AS1)
ENST00000342175.10:c.74568T>A (TTN) ENSP00000340554.6:p.Cys24856Ter
ENST00000342175.11:c.74568T>A (TTN) ENSP00000340554.6:p.Cys24856Ter
ENST00000342992.10:c.93483T>A (TTN) ENSP00000343764.6:p.Cys31161Ter
ENST00000342992.11:c.93483T>A (TTN) ENSP00000343764.6:p.Cys31161Ter
ENST00000359218.10:c.74367T>A (TTN) ENSP00000352154.5:p.Cys24789Ter
ENST00000359218.9:c.74367T>A (TTN) ENSP00000352154.5:p.Cys24789Ter
ENST00000460472.6:c.73992T>A (TTN) ENSP00000434586.1:p.Cys24664Ter
ENST00000591111.5:c.96264T>A (TTN) ENSP00000465570.1:p.Cys32088Ter
ENST00000615779.4:c.96264T>A (TTN) ENSP00000483597.1:p.Cys32088Ter
XM_011511729.1:c.100284T>A (TTN) XP_011510031.1:p.Cys33428Ter
XM_011511730.1:c.74178T>A (TTN) XP_011510032.1:p.Cys24726Ter
XM_011511731.1:c.74037T>A (TTN) XP_011510033.1:p.Cys24679Ter
XM_017004819.1:c.100080T>A (TTN) XP_016860308.1:p.Cys33360Ter
XM_017004820.1:c.95478T>A (TTN) XP_016860309.1:p.Cys31826Ter
XM_017004821.1:c.95475T>A (TTN) XP_016860310.1:p.Cys31825Ter
XM_017004822.1:c.92517T>A (TTN) XP_016860311.1:p.Cys30839Ter
XM_017004823.1:c.74133T>A (TTN) XP_016860312.1:p.Cys24711Ter
XM_024453094.1:c.95628T>A (TTN) XP_024308862.1:p.Cys31876Ter
XM_024453095.1:c.95625T>A (TTN) XP_024308863.1:p.Cys31875Ter
XM_024453096.1:c.95058T>A (TTN) XP_024308864.1:p.Cys31686Ter
XM_024453097.1:c.92400T>A (TTN) XP_024308865.1:p.Cys30800Ter
XM_024453098.1:c.92319T>A (TTN) XP_024308866.1:p.Cys30773Ter
XM_024453099.1:c.74082T>A (TTN) XP_024308867.1:p.Cys24694Ter
XM_024453100.1:c.63936T>A (TTN) XP_024308868.1:p.Cys21312Ter