Canonical Allele Identifier: CA349446480

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543354C>A , CM000664.2:g.178543354C>A GRCh38
NC_000002.11:g.179408081C>A , CM000664.1:g.179408081C>A GRCh37
NC_000002.10:g.179116327C>A NCBI36
NG_011618.3:g.292449G>T , LRG_391:g.292449G>T
NG_051363.1:g.25528C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88915G>T (TTN) ENSP00000343764.6:p.Ala29639Ser
ENST00000342175.11:c.70000G>T (TTN) ENSP00000340554.6:p.Ala23334Ser
ENST00000359218.10:c.69799G>T (TTN) ENSP00000352154.5:p.Ala23267Ser
ENST00000342175.10:c.70000G>T (TTN) ENSP00000340554.6:p.Ala23334Ser
ENST00000342992.10:c.88915G>T (TTN) ENSP00000343764.6:p.Ala29639Ser
ENST00000359218.9:c.69799G>T (TTN) ENSP00000352154.5:p.Ala23267Ser
ENST00000460472.6:c.69424G>T (TTN) ENSP00000434586.1:p.Ala23142Ser
ENST00000589042.5:c.96619G>T (TTN) MANE Select ENSP00000467141.1:p.Ala32207Ser
ENST00000591111.5:c.91696G>T (TTN) ENSP00000465570.1:p.Ala30566Ser
ENST00000615779.4:c.91696G>T (TTN) ENSP00000483597.1:p.Ala30566Ser
NM_001256850.1:c.91696G>T (TTN) NP_001243779.1:p.Ala30566Ser
NM_001267550.2:c.96619G>T (TTN) MANE Select NP_001254479.2:p.Ala32207Ser
NM_003319.4:c.69424G>T (TTN) NP_003310.4:p.Ala23142Ser
NM_133378.4:c.88915G>T (TTN) NP_596869.4:p.Ala29639Ser
NM_133432.3:c.69799G>T (TTN) NP_597676.3:p.Ala23267Ser
NM_133437.4:c.70000G>T (TTN) NP_597681.4:p.Ala23334Ser
NR_038271.1:n.446+19718C>A (TTN-AS1)
NR_038272.1:n.2043+993C>A (TTN-AS1)
XM_011511729.1:c.95716G>T (TTN) XP_011510031.1:p.Ala31906Ser
XM_011511730.1:c.69610G>T (TTN) XP_011510032.1:p.Ala23204Ser
XM_011511731.1:c.69469G>T (TTN) XP_011510033.1:p.Ala23157Ser
XM_017004819.1:c.95512G>T (TTN) XP_016860308.1:p.Ala31838Ser
XM_017004820.1:c.90910G>T (TTN) XP_016860309.1:p.Ala30304Ser
XM_017004821.1:c.90907G>T (TTN) XP_016860310.1:p.Ala30303Ser
XM_017004822.1:c.87949G>T (TTN) XP_016860311.1:p.Ala29317Ser
XM_017004823.1:c.69565G>T (TTN) XP_016860312.1:p.Ala23189Ser
XM_024453094.1:c.91060G>T (TTN) XP_024308862.1:p.Ala30354Ser
XM_024453095.1:c.91057G>T (TTN) XP_024308863.1:p.Ala30353Ser
XM_024453096.1:c.90490G>T (TTN) XP_024308864.1:p.Ala30164Ser
XM_024453097.1:c.87832G>T (TTN) XP_024308865.1:p.Ala29278Ser
XM_024453098.1:c.87751G>T (TTN) XP_024308866.1:p.Ala29251Ser
XM_024453099.1:c.69514G>T (TTN) XP_024308867.1:p.Ala23172Ser
XM_024453100.1:c.59368G>T (TTN) XP_024308868.1:p.Ala19790Ser