Canonical Allele Identifier: CA349456565

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544358G>T , CM000664.2:g.178544358G>T GRCh38
NC_000002.11:g.179409085G>T , CM000664.1:g.179409085G>T GRCh37
NC_000002.10:g.179117331G>T NCBI36
NG_011618.3:g.291445C>A , LRG_391:g.291445C>A
NG_051363.1:g.26532G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88167C>A (TTN) ENSP00000343764.6:p.Tyr29389Ter
ENST00000342175.11:c.69252C>A (TTN) ENSP00000340554.6:p.Tyr23084Ter
ENST00000359218.10:c.69051C>A (TTN) ENSP00000352154.5:p.Tyr23017Ter
ENST00000342175.10:c.69252C>A (TTN) ENSP00000340554.6:p.Tyr23084Ter
ENST00000342992.10:c.88167C>A (TTN) ENSP00000343764.6:p.Tyr29389Ter
ENST00000359218.9:c.69051C>A (TTN) ENSP00000352154.5:p.Tyr23017Ter
ENST00000460472.6:c.68676C>A (TTN) ENSP00000434586.1:p.Tyr22892Ter
ENST00000589042.5:c.95871C>A (TTN) MANE Select ENSP00000467141.1:p.Tyr31957Ter
ENST00000591111.5:c.90948C>A (TTN) ENSP00000465570.1:p.Tyr30316Ter
ENST00000615779.4:c.90948C>A (TTN) ENSP00000483597.1:p.Tyr30316Ter
NM_001256850.1:c.90948C>A (TTN) NP_001243779.1:p.Tyr30316Ter
NM_001267550.2:c.95871C>A (TTN) MANE Select NP_001254479.2:p.Tyr31957Ter
NM_003319.4:c.68676C>A (TTN) NP_003310.4:p.Tyr22892Ter
NM_133378.4:c.88167C>A (TTN) NP_596869.4:p.Tyr29389Ter
NM_133432.3:c.69051C>A (TTN) NP_597676.3:p.Tyr23017Ter
NM_133437.4:c.69252C>A (TTN) NP_597681.4:p.Tyr23084Ter
NR_038271.1:n.446+20722G>T (TTN-AS1)
NR_038272.1:n.2043+1997G>T (TTN-AS1)
XM_011511729.1:c.94968C>A (TTN) XP_011510031.1:p.Tyr31656Ter
XM_011511730.1:c.68862C>A (TTN) XP_011510032.1:p.Tyr22954Ter
XM_011511731.1:c.68721C>A (TTN) XP_011510033.1:p.Tyr22907Ter
XM_017004819.1:c.94764C>A (TTN) XP_016860308.1:p.Tyr31588Ter
XM_017004820.1:c.90162C>A (TTN) XP_016860309.1:p.Tyr30054Ter
XM_017004821.1:c.90159C>A (TTN) XP_016860310.1:p.Tyr30053Ter
XM_017004822.1:c.87201C>A (TTN) XP_016860311.1:p.Tyr29067Ter
XM_017004823.1:c.68817C>A (TTN) XP_016860312.1:p.Tyr22939Ter
XM_024453094.1:c.90312C>A (TTN) XP_024308862.1:p.Tyr30104Ter
XM_024453095.1:c.90309C>A (TTN) XP_024308863.1:p.Tyr30103Ter
XM_024453096.1:c.89742C>A (TTN) XP_024308864.1:p.Tyr29914Ter
XM_024453097.1:c.87084C>A (TTN) XP_024308865.1:p.Tyr29028Ter
XM_024453098.1:c.87003C>A (TTN) XP_024308866.1:p.Tyr29001Ter
XM_024453099.1:c.68766C>A (TTN) XP_024308867.1:p.Tyr22922Ter
XM_024453100.1:c.58620C>A (TTN) XP_024308868.1:p.Tyr19540Ter