Canonical Allele Identifier: CA349672540

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178578084C>A , CM000664.2:g.178578084C>A GRCh38
NC_000002.11:g.179442811C>A , CM000664.1:g.179442811C>A GRCh37
NC_000002.10:g.179151057C>A NCBI36
NG_011618.3:g.257719G>T , LRG_391:g.257719G>T
NG_051363.1:g.60258C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.60727G>T (TTN) ENSP00000343764.6:p.Gly20243Cys
ENST00000342175.11:c.41812G>T (TTN) ENSP00000340554.6:p.Gly13938Cys
ENST00000359218.10:c.41611G>T (TTN) ENSP00000352154.5:p.Gly13871Cys
ENST00000342175.10:c.41812G>T (TTN) ENSP00000340554.6:p.Gly13938Cys
ENST00000342992.10:c.60727G>T (TTN) ENSP00000343764.6:p.Gly20243Cys
ENST00000359218.9:c.41611G>T (TTN) ENSP00000352154.5:p.Gly13871Cys
ENST00000460472.6:c.41236G>T (TTN) ENSP00000434586.1:p.Gly13746Cys
ENST00000589042.5:c.68431G>T (TTN) MANE Select ENSP00000467141.1:p.Gly22811Cys
ENST00000591111.5:c.63508G>T (TTN) ENSP00000465570.1:p.Gly21170Cys
ENST00000615779.4:c.63508G>T (TTN) ENSP00000483597.1:p.Gly21170Cys
NM_001256850.1:c.63508G>T (TTN) NP_001243779.1:p.Gly21170Cys
NM_001267550.2:c.68431G>T (TTN) MANE Select NP_001254479.2:p.Gly22811Cys
NM_003319.4:c.41236G>T (TTN) NP_003310.4:p.Gly13746Cys
NM_133378.4:c.60727G>T (TTN) NP_596869.4:p.Gly20243Cys
NM_133432.3:c.41611G>T (TTN) NP_597676.3:p.Gly13871Cys
NM_133437.4:c.41812G>T (TTN) NP_597681.4:p.Gly13938Cys
NR_038271.1:n.596+6635C>A (TTN-AS1)
NR_038272.1:n.2044-4488C>A (TTN-AS1)
XM_011511729.1:c.67528G>T (TTN) XP_011510031.1:p.Gly22510Cys
XM_011511730.1:c.41422G>T (TTN) XP_011510032.1:p.Gly13808Cys
XM_011511731.1:c.41281G>T (TTN) XP_011510033.1:p.Gly13761Cys
XM_017004819.1:c.67324G>T (TTN) XP_016860308.1:p.Gly22442Cys
XM_017004820.1:c.62722G>T (TTN) XP_016860309.1:p.Gly20908Cys
XM_017004821.1:c.62719G>T (TTN) XP_016860310.1:p.Gly20907Cys
XM_017004822.1:c.59761G>T (TTN) XP_016860311.1:p.Gly19921Cys
XM_017004823.1:c.41377G>T (TTN) XP_016860312.1:p.Gly13793Cys
XM_024453094.1:c.62872G>T (TTN) XP_024308862.1:p.Gly20958Cys
XM_024453095.1:c.62869G>T (TTN) XP_024308863.1:p.Gly20957Cys
XM_024453096.1:c.62302G>T (TTN) XP_024308864.1:p.Gly20768Cys
XM_024453097.1:c.59644G>T (TTN) XP_024308865.1:p.Gly19882Cys
XM_024453098.1:c.59563G>T (TTN) XP_024308866.1:p.Gly19855Cys
XM_024453099.1:c.41326G>T (TTN) XP_024308867.1:p.Gly13776Cys
XM_024453100.1:c.31180G>T (TTN) XP_024308868.1:p.Gly10394Cys