Canonical Allele Identifier: CA349521671

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178554107A>T , CM000664.2:g.178554107A>T GRCh38
NC_000002.11:g.179418834A>T , CM000664.1:g.179418834A>T GRCh37
NC_000002.10:g.179127080A>T NCBI36
NG_011618.3:g.281696T>A , LRG_391:g.281696T>A
NG_051363.1:g.36281A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.81300T>A (TTN) ENSP00000343764.6:p.Tyr27100Ter
ENST00000342175.11:c.62385T>A (TTN) ENSP00000340554.6:p.Tyr20795Ter
ENST00000359218.10:c.62184T>A (TTN) ENSP00000352154.5:p.Tyr20728Ter
ENST00000342175.10:c.62385T>A (TTN) ENSP00000340554.6:p.Tyr20795Ter
ENST00000342992.10:c.81300T>A (TTN) ENSP00000343764.6:p.Tyr27100Ter
ENST00000359218.9:c.62184T>A (TTN) ENSP00000352154.5:p.Tyr20728Ter
ENST00000460472.6:c.61809T>A (TTN) ENSP00000434586.1:p.Tyr20603Ter
ENST00000589042.5:c.89004T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr29668Ter
ENST00000591111.5:c.84081T>A (TTN) ENSP00000465570.1:p.Tyr28027Ter
ENST00000615779.4:c.84081T>A (TTN) ENSP00000483597.1:p.Tyr28027Ter
NM_001256850.1:c.84081T>A (TTN) NP_001243779.1:p.Tyr28027Ter
NM_001267550.2:c.89004T>A (TTN) MANE Select NP_001254479.2:p.Tyr29668Ter
NM_003319.4:c.61809T>A (TTN) NP_003310.4:p.Tyr20603Ter
NM_133378.4:c.81300T>A (TTN) NP_596869.4:p.Tyr27100Ter
NM_133432.3:c.62184T>A (TTN) NP_597676.3:p.Tyr20728Ter
NM_133437.4:c.62385T>A (TTN) NP_597681.4:p.Tyr20795Ter
NR_038271.1:n.447-17193A>T (TTN-AS1)
NR_038272.1:n.2043+11746A>T (TTN-AS1)
XM_011511729.1:c.88101T>A (TTN) XP_011510031.1:p.Tyr29367Ter
XM_011511730.1:c.61995T>A (TTN) XP_011510032.1:p.Tyr20665Ter
XM_011511731.1:c.61854T>A (TTN) XP_011510033.1:p.Tyr20618Ter
XM_017004819.1:c.87897T>A (TTN) XP_016860308.1:p.Tyr29299Ter
XM_017004820.1:c.83295T>A (TTN) XP_016860309.1:p.Tyr27765Ter
XM_017004821.1:c.83292T>A (TTN) XP_016860310.1:p.Tyr27764Ter
XM_017004822.1:c.80334T>A (TTN) XP_016860311.1:p.Tyr26778Ter
XM_017004823.1:c.61950T>A (TTN) XP_016860312.1:p.Tyr20650Ter
XM_024453094.1:c.83445T>A (TTN) XP_024308862.1:p.Tyr27815Ter
XM_024453095.1:c.83442T>A (TTN) XP_024308863.1:p.Tyr27814Ter
XM_024453096.1:c.82875T>A (TTN) XP_024308864.1:p.Tyr27625Ter
XM_024453097.1:c.80217T>A (TTN) XP_024308865.1:p.Tyr26739Ter
XM_024453098.1:c.80136T>A (TTN) XP_024308866.1:p.Tyr26712Ter
XM_024453099.1:c.61899T>A (TTN) XP_024308867.1:p.Tyr20633Ter
XM_024453100.1:c.51753T>A (TTN) XP_024308868.1:p.Tyr17251Ter