Canonical Allele Identifier: CA349479265
Community Standard Title: NM_001267550.2(TTN):c.93956C>A (p.Ser31319Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178547670G>T , CM000664.2:g.178547670G>T GRCh38
NC_000002.11:g.179412397G>T , CM000664.1:g.179412397G>T GRCh37
NC_000002.10:g.179120643G>T NCBI36
NG_011618.3:g.288133C>A , LRG_391:g.288133C>A
NG_051363.1:g.29844G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.93956C>A (TTN) MANE Select NP_001254479.2:p.Ser31319Ter
ENST00000589042.5:c.93956C>A (TTN) MANE Select ENSP00000467141.1:p.Ser31319Ter
NM_001256850.1:c.89033C>A (TTN) NP_001243779.1:p.Ser29678Ter
NM_003319.4:c.66761C>A (TTN) NP_003310.4:p.Ser22254Ter
NM_133378.4:c.86252C>A (TTN) NP_596869.4:p.Ser28751Ter
NM_133432.3:c.67136C>A (TTN) NP_597676.3:p.Ser22379Ter
NM_133437.4:c.67337C>A (TTN) NP_597681.4:p.Ser22446Ter
NR_038271.1:n.447-23630G>T (TTN-AS1)
NR_038272.1:n.2043+5309G>T (TTN-AS1)
ENST00000342175.10:c.67337C>A (TTN) ENSP00000340554.6:p.Ser22446Ter
ENST00000342175.11:c.67337C>A (TTN) ENSP00000340554.6:p.Ser22446Ter
ENST00000342992.10:c.86252C>A (TTN) ENSP00000343764.6:p.Ser28751Ter
ENST00000342992.11:c.86252C>A (TTN) ENSP00000343764.6:p.Ser28751Ter
ENST00000359218.10:c.67136C>A (TTN) ENSP00000352154.5:p.Ser22379Ter
ENST00000359218.9:c.67136C>A (TTN) ENSP00000352154.5:p.Ser22379Ter
ENST00000460472.6:c.66761C>A (TTN) ENSP00000434586.1:p.Ser22254Ter
ENST00000591111.5:c.89033C>A (TTN) ENSP00000465570.1:p.Ser29678Ter
ENST00000615779.4:c.89033C>A (TTN) ENSP00000483597.1:p.Ser29678Ter
XM_011511729.1:c.93053C>A (TTN) XP_011510031.1:p.Ser31018Ter
XM_011511730.1:c.66947C>A (TTN) XP_011510032.1:p.Ser22316Ter
XM_011511731.1:c.66806C>A (TTN) XP_011510033.1:p.Ser22269Ter
XM_017004819.1:c.92849C>A (TTN) XP_016860308.1:p.Ser30950Ter
XM_017004820.1:c.88247C>A (TTN) XP_016860309.1:p.Ser29416Ter
XM_017004821.1:c.88244C>A (TTN) XP_016860310.1:p.Ser29415Ter
XM_017004822.1:c.85286C>A (TTN) XP_016860311.1:p.Ser28429Ter
XM_017004823.1:c.66902C>A (TTN) XP_016860312.1:p.Ser22301Ter
XM_024453094.1:c.88397C>A (TTN) XP_024308862.1:p.Ser29466Ter
XM_024453095.1:c.88394C>A (TTN) XP_024308863.1:p.Ser29465Ter
XM_024453096.1:c.87827C>A (TTN) XP_024308864.1:p.Ser29276Ter
XM_024453097.1:c.85169C>A (TTN) XP_024308865.1:p.Ser28390Ter
XM_024453098.1:c.85088C>A (TTN) XP_024308866.1:p.Ser28363Ter
XM_024453099.1:c.66851C>A (TTN) XP_024308867.1:p.Ser22284Ter
XM_024453100.1:c.56705C>A (TTN) XP_024308868.1:p.Ser18902Ter