Canonical Allele Identifier: CA10613005
Community Standard Title: NM_001267550.2(TTN):c.105257T>A (p.Met35086Lys)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531358A>T , CM000664.2:g.178531358A>T GRCh38
NC_000002.11:g.179396085A>T , CM000664.1:g.179396085A>T GRCh37
NC_000002.10:g.179104331A>T NCBI36
NG_011618.3:g.304445T>A , LRG_391:g.304445T>A
NG_051363.1:g.13532A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.105257T>A (TTN) MANE Select NP_001254479.2:p.Met35086Lys
ENST00000589042.5:c.105257T>A (TTN) MANE Select ENSP00000467141.1:p.Met35086Lys
NM_001256850.1:c.100334T>A (TTN) NP_001243779.1:p.Met33445Lys
NM_003319.4:c.78062T>A (TTN) NP_003310.4:p.Met26021Lys
NM_133378.4:c.97553T>A (TTN) NP_596869.4:p.Met32518Lys
NM_133432.3:c.78437T>A (TTN) NP_597676.3:p.Met26146Lys
NM_133437.4:c.78638T>A (TTN) NP_597681.4:p.Met26213Lys
NR_038271.1:n.446+7722A>T (TTN-AS1)
NR_038272.1:n.220-4374A>T (TTN-AS1)
ENST00000342175.10:c.78638T>A (TTN) ENSP00000340554.6:p.Met26213Lys
ENST00000342175.11:c.78638T>A (TTN) ENSP00000340554.6:p.Met26213Lys
ENST00000342992.10:c.97553T>A (TTN) ENSP00000343764.6:p.Met32518Lys
ENST00000342992.11:c.97553T>A (TTN) ENSP00000343764.6:p.Met32518Lys
ENST00000359218.10:c.78437T>A (TTN) ENSP00000352154.5:p.Met26146Lys
ENST00000359218.9:c.78437T>A (TTN) ENSP00000352154.5:p.Met26146Lys
ENST00000460472.6:c.78062T>A (TTN) ENSP00000434586.1:p.Met26021Lys
ENST00000591111.5:c.100334T>A (TTN) ENSP00000465570.1:p.Met33445Lys
ENST00000615779.4:c.100334T>A (TTN) ENSP00000483597.1:p.Met33445Lys
XM_011511729.1:c.104354T>A (TTN) XP_011510031.1:p.Met34785Lys
XM_011511730.1:c.78248T>A (TTN) XP_011510032.1:p.Met26083Lys
XM_011511731.1:c.78107T>A (TTN) XP_011510033.1:p.Met26036Lys
XM_017004819.1:c.104150T>A (TTN) XP_016860308.1:p.Met34717Lys
XM_017004820.1:c.99548T>A (TTN) XP_016860309.1:p.Met33183Lys
XM_017004821.1:c.99545T>A (TTN) XP_016860310.1:p.Met33182Lys
XM_017004822.1:c.96587T>A (TTN) XP_016860311.1:p.Met32196Lys
XM_017004823.1:c.78203T>A (TTN) XP_016860312.1:p.Met26068Lys
XM_024453094.1:c.99698T>A (TTN) XP_024308862.1:p.Met33233Lys
XM_024453095.1:c.99695T>A (TTN) XP_024308863.1:p.Met33232Lys
XM_024453096.1:c.99128T>A (TTN) XP_024308864.1:p.Met33043Lys
XM_024453097.1:c.96470T>A (TTN) XP_024308865.1:p.Met32157Lys
XM_024453098.1:c.96389T>A (TTN) XP_024308866.1:p.Met32130Lys
XM_024453099.1:c.78152T>A (TTN) XP_024308867.1:p.Met26051Lys
XM_024453100.1:c.68006T>A (TTN) XP_024308868.1:p.Met22669Lys