Canonical Allele Identifier: CA349450950

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543895G>T , CM000664.2:g.178543895G>T GRCh38
NC_000002.11:g.179408622G>T , CM000664.1:g.179408622G>T GRCh37
NC_000002.10:g.179116868G>T NCBI36
NG_011618.3:g.291908C>A , LRG_391:g.291908C>A
NG_051363.1:g.26069G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88545C>A (TTN) ENSP00000343764.6:p.Tyr29515Ter
ENST00000342175.11:c.69630C>A (TTN) ENSP00000340554.6:p.Tyr23210Ter
ENST00000359218.10:c.69429C>A (TTN) ENSP00000352154.5:p.Tyr23143Ter
ENST00000342175.10:c.69630C>A (TTN) ENSP00000340554.6:p.Tyr23210Ter
ENST00000342992.10:c.88545C>A (TTN) ENSP00000343764.6:p.Tyr29515Ter
ENST00000359218.9:c.69429C>A (TTN) ENSP00000352154.5:p.Tyr23143Ter
ENST00000460472.6:c.69054C>A (TTN) ENSP00000434586.1:p.Tyr23018Ter
ENST00000589042.5:c.96249C>A (TTN) MANE Select ENSP00000467141.1:p.Tyr32083Ter
ENST00000591111.5:c.91326C>A (TTN) ENSP00000465570.1:p.Tyr30442Ter
ENST00000615779.4:c.91326C>A (TTN) ENSP00000483597.1:p.Tyr30442Ter
NM_001256850.1:c.91326C>A (TTN) NP_001243779.1:p.Tyr30442Ter
NM_001267550.2:c.96249C>A (TTN) MANE Select NP_001254479.2:p.Tyr32083Ter
NM_003319.4:c.69054C>A (TTN) NP_003310.4:p.Tyr23018Ter
NM_133378.4:c.88545C>A (TTN) NP_596869.4:p.Tyr29515Ter
NM_133432.3:c.69429C>A (TTN) NP_597676.3:p.Tyr23143Ter
NM_133437.4:c.69630C>A (TTN) NP_597681.4:p.Tyr23210Ter
NR_038271.1:n.446+20259G>T (TTN-AS1)
NR_038272.1:n.2043+1534G>T (TTN-AS1)
XM_011511729.1:c.95346C>A (TTN) XP_011510031.1:p.Tyr31782Ter
XM_011511730.1:c.69240C>A (TTN) XP_011510032.1:p.Tyr23080Ter
XM_011511731.1:c.69099C>A (TTN) XP_011510033.1:p.Tyr23033Ter
XM_017004819.1:c.95142C>A (TTN) XP_016860308.1:p.Tyr31714Ter
XM_017004820.1:c.90540C>A (TTN) XP_016860309.1:p.Tyr30180Ter
XM_017004821.1:c.90537C>A (TTN) XP_016860310.1:p.Tyr30179Ter
XM_017004822.1:c.87579C>A (TTN) XP_016860311.1:p.Tyr29193Ter
XM_017004823.1:c.69195C>A (TTN) XP_016860312.1:p.Tyr23065Ter
XM_024453094.1:c.90690C>A (TTN) XP_024308862.1:p.Tyr30230Ter
XM_024453095.1:c.90687C>A (TTN) XP_024308863.1:p.Tyr30229Ter
XM_024453096.1:c.90120C>A (TTN) XP_024308864.1:p.Tyr30040Ter
XM_024453097.1:c.87462C>A (TTN) XP_024308865.1:p.Tyr29154Ter
XM_024453098.1:c.87381C>A (TTN) XP_024308866.1:p.Tyr29127Ter
XM_024453099.1:c.69144C>A (TTN) XP_024308867.1:p.Tyr23048Ter
XM_024453100.1:c.58998C>A (TTN) XP_024308868.1:p.Tyr19666Ter