Canonical Allele Identifier: CA349410960
Community Standard Title: NM_001267550.2(TTN):c.104771C>A (p.Ser34924Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531844G>T , CM000664.2:g.178531844G>T GRCh38
NC_000002.11:g.179396571G>T , CM000664.1:g.179396571G>T GRCh37
NC_000002.10:g.179104817G>T NCBI36
NG_011618.3:g.303959C>A , LRG_391:g.303959C>A
NG_051363.1:g.14018G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.104771C>A (TTN) MANE Select NP_001254479.2:p.Ser34924Ter
ENST00000589042.5:c.104771C>A (TTN) MANE Select ENSP00000467141.1:p.Ser34924Ter
NM_001256850.1:c.99848C>A (TTN) NP_001243779.1:p.Ser33283Ter
NM_003319.4:c.77576C>A (TTN) NP_003310.4:p.Ser25859Ter
NM_133378.4:c.97067C>A (TTN) NP_596869.4:p.Ser32356Ter
NM_133432.3:c.77951C>A (TTN) NP_597676.3:p.Ser25984Ter
NM_133437.4:c.78152C>A (TTN) NP_597681.4:p.Ser26051Ter
NR_038271.1:n.446+8208G>T (TTN-AS1)
NR_038272.1:n.220-3888G>T (TTN-AS1)
ENST00000342175.10:c.78152C>A (TTN) ENSP00000340554.6:p.Ser26051Ter
ENST00000342175.11:c.78152C>A (TTN) ENSP00000340554.6:p.Ser26051Ter
ENST00000342992.10:c.97067C>A (TTN) ENSP00000343764.6:p.Ser32356Ter
ENST00000342992.11:c.97067C>A (TTN) ENSP00000343764.6:p.Ser32356Ter
ENST00000359218.10:c.77951C>A (TTN) ENSP00000352154.5:p.Ser25984Ter
ENST00000359218.9:c.77951C>A (TTN) ENSP00000352154.5:p.Ser25984Ter
ENST00000460472.6:c.77576C>A (TTN) ENSP00000434586.1:p.Ser25859Ter
ENST00000591111.5:c.99848C>A (TTN) ENSP00000465570.1:p.Ser33283Ter
ENST00000615779.4:c.99848C>A (TTN) ENSP00000483597.1:p.Ser33283Ter
XM_011511729.1:c.103868C>A (TTN) XP_011510031.1:p.Ser34623Ter
XM_011511730.1:c.77762C>A (TTN) XP_011510032.1:p.Ser25921Ter
XM_011511731.1:c.77621C>A (TTN) XP_011510033.1:p.Ser25874Ter
XM_017004819.1:c.103664C>A (TTN) XP_016860308.1:p.Ser34555Ter
XM_017004820.1:c.99062C>A (TTN) XP_016860309.1:p.Ser33021Ter
XM_017004821.1:c.99059C>A (TTN) XP_016860310.1:p.Ser33020Ter
XM_017004822.1:c.96101C>A (TTN) XP_016860311.1:p.Ser32034Ter
XM_017004823.1:c.77717C>A (TTN) XP_016860312.1:p.Ser25906Ter
XM_024453094.1:c.99212C>A (TTN) XP_024308862.1:p.Ser33071Ter
XM_024453095.1:c.99209C>A (TTN) XP_024308863.1:p.Ser33070Ter
XM_024453096.1:c.98642C>A (TTN) XP_024308864.1:p.Ser32881Ter
XM_024453097.1:c.95984C>A (TTN) XP_024308865.1:p.Ser31995Ter
XM_024453098.1:c.95903C>A (TTN) XP_024308866.1:p.Ser31968Ter
XM_024453099.1:c.77666C>A (TTN) XP_024308867.1:p.Ser25889Ter
XM_024453100.1:c.67520C>A (TTN) XP_024308868.1:p.Ser22507Ter