Canonical Allele Identifier: CA349411665

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532150G>T , CM000664.2:g.178532150G>T GRCh38
NC_000002.11:g.179396877G>T , CM000664.1:g.179396877G>T GRCh37
NC_000002.10:g.179105123G>T NCBI36
NG_011618.3:g.303653C>A , LRG_391:g.303653C>A
NG_051363.1:g.14324G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96761C>A (TTN) ENSP00000343764.6:p.Ser32254Ter
ENST00000342175.11:c.77846C>A (TTN) ENSP00000340554.6:p.Ser25949Ter
ENST00000359218.10:c.77645C>A (TTN) ENSP00000352154.5:p.Ser25882Ter
ENST00000342175.10:c.77846C>A (TTN) ENSP00000340554.6:p.Ser25949Ter
ENST00000342992.10:c.96761C>A (TTN) ENSP00000343764.6:p.Ser32254Ter
ENST00000359218.9:c.77645C>A (TTN) ENSP00000352154.5:p.Ser25882Ter
ENST00000460472.6:c.77270C>A (TTN) ENSP00000434586.1:p.Ser25757Ter
ENST00000589042.5:c.104465C>A (TTN) MANE Select ENSP00000467141.1:p.Ser34822Ter
ENST00000591111.5:c.99542C>A (TTN) ENSP00000465570.1:p.Ser33181Ter
ENST00000615779.4:c.99542C>A (TTN) ENSP00000483597.1:p.Ser33181Ter
NM_001256850.1:c.99542C>A (TTN) NP_001243779.1:p.Ser33181Ter
NM_001267550.2:c.104465C>A (TTN) MANE Select NP_001254479.2:p.Ser34822Ter
NM_003319.4:c.77270C>A (TTN) NP_003310.4:p.Ser25757Ter
NM_133378.4:c.96761C>A (TTN) NP_596869.4:p.Ser32254Ter
NM_133432.3:c.77645C>A (TTN) NP_597676.3:p.Ser25882Ter
NM_133437.4:c.77846C>A (TTN) NP_597681.4:p.Ser25949Ter
NR_038271.1:n.446+8514G>T (TTN-AS1)
NR_038272.1:n.220-3582G>T (TTN-AS1)
XM_011511729.1:c.103562C>A (TTN) XP_011510031.1:p.Ser34521Ter
XM_011511730.1:c.77456C>A (TTN) XP_011510032.1:p.Ser25819Ter
XM_011511731.1:c.77315C>A (TTN) XP_011510033.1:p.Ser25772Ter
XM_017004819.1:c.103358C>A (TTN) XP_016860308.1:p.Ser34453Ter
XM_017004820.1:c.98756C>A (TTN) XP_016860309.1:p.Ser32919Ter
XM_017004821.1:c.98753C>A (TTN) XP_016860310.1:p.Ser32918Ter
XM_017004822.1:c.95795C>A (TTN) XP_016860311.1:p.Ser31932Ter
XM_017004823.1:c.77411C>A (TTN) XP_016860312.1:p.Ser25804Ter
XM_024453094.1:c.98906C>A (TTN) XP_024308862.1:p.Ser32969Ter
XM_024453095.1:c.98903C>A (TTN) XP_024308863.1:p.Ser32968Ter
XM_024453096.1:c.98336C>A (TTN) XP_024308864.1:p.Ser32779Ter
XM_024453097.1:c.95678C>A (TTN) XP_024308865.1:p.Ser31893Ter
XM_024453098.1:c.95597C>A (TTN) XP_024308866.1:p.Ser31866Ter
XM_024453099.1:c.77360C>A (TTN) XP_024308867.1:p.Ser25787Ter
XM_024453100.1:c.67214C>A (TTN) XP_024308868.1:p.Ser22405Ter