Canonical Allele Identifier: CA349520848
Community Standard Title: NM_001267550.2(TTN):c.89118C>A (p.Tyr29706Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178553993G>T , CM000664.2:g.178553993G>T GRCh38
NC_000002.11:g.179418720G>T , CM000664.1:g.179418720G>T GRCh37
NC_000002.10:g.179126966G>T NCBI36
NG_011618.3:g.281810C>A , LRG_391:g.281810C>A
NG_051363.1:g.36167G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.89118C>A (TTN) MANE Select NP_001254479.2:p.Tyr29706Ter
ENST00000589042.5:c.89118C>A (TTN) MANE Select ENSP00000467141.1:p.Tyr29706Ter
NM_001256850.1:c.84195C>A (TTN) NP_001243779.1:p.Tyr28065Ter
NM_003319.4:c.61923C>A (TTN) NP_003310.4:p.Tyr20641Ter
NM_133378.4:c.81414C>A (TTN) NP_596869.4:p.Tyr27138Ter
NM_133432.3:c.62298C>A (TTN) NP_597676.3:p.Tyr20766Ter
NM_133437.4:c.62499C>A (TTN) NP_597681.4:p.Tyr20833Ter
NR_038271.1:n.447-17307G>T (TTN-AS1)
NR_038272.1:n.2043+11632G>T (TTN-AS1)
ENST00000342175.10:c.62499C>A (TTN) ENSP00000340554.6:p.Tyr20833Ter
ENST00000342175.11:c.62499C>A (TTN) ENSP00000340554.6:p.Tyr20833Ter
ENST00000342992.10:c.81414C>A (TTN) ENSP00000343764.6:p.Tyr27138Ter
ENST00000342992.11:c.81414C>A (TTN) ENSP00000343764.6:p.Tyr27138Ter
ENST00000359218.10:c.62298C>A (TTN) ENSP00000352154.5:p.Tyr20766Ter
ENST00000359218.9:c.62298C>A (TTN) ENSP00000352154.5:p.Tyr20766Ter
ENST00000460472.6:c.61923C>A (TTN) ENSP00000434586.1:p.Tyr20641Ter
ENST00000591111.5:c.84195C>A (TTN) ENSP00000465570.1:p.Tyr28065Ter
ENST00000615779.4:c.84195C>A (TTN) ENSP00000483597.1:p.Tyr28065Ter
XM_011511729.1:c.88215C>A (TTN) XP_011510031.1:p.Tyr29405Ter
XM_011511730.1:c.62109C>A (TTN) XP_011510032.1:p.Tyr20703Ter
XM_011511731.1:c.61968C>A (TTN) XP_011510033.1:p.Tyr20656Ter
XM_017004819.1:c.88011C>A (TTN) XP_016860308.1:p.Tyr29337Ter
XM_017004820.1:c.83409C>A (TTN) XP_016860309.1:p.Tyr27803Ter
XM_017004821.1:c.83406C>A (TTN) XP_016860310.1:p.Tyr27802Ter
XM_017004822.1:c.80448C>A (TTN) XP_016860311.1:p.Tyr26816Ter
XM_017004823.1:c.62064C>A (TTN) XP_016860312.1:p.Tyr20688Ter
XM_024453094.1:c.83559C>A (TTN) XP_024308862.1:p.Tyr27853Ter
XM_024453095.1:c.83556C>A (TTN) XP_024308863.1:p.Tyr27852Ter
XM_024453096.1:c.82989C>A (TTN) XP_024308864.1:p.Tyr27663Ter
XM_024453097.1:c.80331C>A (TTN) XP_024308865.1:p.Tyr26777Ter
XM_024453098.1:c.80250C>A (TTN) XP_024308866.1:p.Tyr26750Ter
XM_024453099.1:c.62013C>A (TTN) XP_024308867.1:p.Tyr20671Ter
XM_024453100.1:c.51867C>A (TTN) XP_024308868.1:p.Tyr17289Ter