Canonical Allele Identifier: CA349463426
Community Standard Title: NM_001267550.2(TTN):c.95264G>A (p.Trp31755Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178545972C>T , CM000664.2:g.178545972C>T GRCh38
NC_000002.11:g.179410699C>T , CM000664.1:g.179410699C>T GRCh37
NC_000002.10:g.179118945C>T NCBI36
NG_011618.3:g.289831G>A , LRG_391:g.289831G>A
NG_051363.1:g.28146C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.95264G>A (TTN) MANE Select NP_001254479.2:p.Trp31755Ter
ENST00000589042.5:c.95264G>A (TTN) MANE Select ENSP00000467141.1:p.Trp31755Ter
NM_001256850.1:c.90341G>A (TTN) NP_001243779.1:p.Trp30114Ter
NM_003319.4:c.68069G>A (TTN) NP_003310.4:p.Trp22690Ter
NM_133378.4:c.87560G>A (TTN) NP_596869.4:p.Trp29187Ter
NM_133432.3:c.68444G>A (TTN) NP_597676.3:p.Trp22815Ter
NM_133437.4:c.68645G>A (TTN) NP_597681.4:p.Trp22882Ter
NR_038271.1:n.446+22336C>T (TTN-AS1)
NR_038272.1:n.2043+3611C>T (TTN-AS1)
ENST00000342175.10:c.68645G>A (TTN) ENSP00000340554.6:p.Trp22882Ter
ENST00000342175.11:c.68645G>A (TTN) ENSP00000340554.6:p.Trp22882Ter
ENST00000342992.10:c.87560G>A (TTN) ENSP00000343764.6:p.Trp29187Ter
ENST00000342992.11:c.87560G>A (TTN) ENSP00000343764.6:p.Trp29187Ter
ENST00000359218.10:c.68444G>A (TTN) ENSP00000352154.5:p.Trp22815Ter
ENST00000359218.9:c.68444G>A (TTN) ENSP00000352154.5:p.Trp22815Ter
ENST00000460472.6:c.68069G>A (TTN) ENSP00000434586.1:p.Trp22690Ter
ENST00000591111.5:c.90341G>A (TTN) ENSP00000465570.1:p.Trp30114Ter
ENST00000615779.4:c.90341G>A (TTN) ENSP00000483597.1:p.Trp30114Ter
XM_011511729.1:c.94361G>A (TTN) XP_011510031.1:p.Trp31454Ter
XM_011511730.1:c.68255G>A (TTN) XP_011510032.1:p.Trp22752Ter
XM_011511731.1:c.68114G>A (TTN) XP_011510033.1:p.Trp22705Ter
XM_017004819.1:c.94157G>A (TTN) XP_016860308.1:p.Trp31386Ter
XM_017004820.1:c.89555G>A (TTN) XP_016860309.1:p.Trp29852Ter
XM_017004821.1:c.89552G>A (TTN) XP_016860310.1:p.Trp29851Ter
XM_017004822.1:c.86594G>A (TTN) XP_016860311.1:p.Trp28865Ter
XM_017004823.1:c.68210G>A (TTN) XP_016860312.1:p.Trp22737Ter
XM_024453094.1:c.89705G>A (TTN) XP_024308862.1:p.Trp29902Ter
XM_024453095.1:c.89702G>A (TTN) XP_024308863.1:p.Trp29901Ter
XM_024453096.1:c.89135G>A (TTN) XP_024308864.1:p.Trp29712Ter
XM_024453097.1:c.86477G>A (TTN) XP_024308865.1:p.Trp28826Ter
XM_024453098.1:c.86396G>A (TTN) XP_024308866.1:p.Trp28799Ter
XM_024453099.1:c.68159G>A (TTN) XP_024308867.1:p.Trp22720Ter
XM_024453100.1:c.58013G>A (TTN) XP_024308868.1:p.Trp19338Ter