Canonical Allele Identifier: CA1985344
Community Standard Title: NM_001267550.2(TTN):c.104863T>G (p.Cys34955Gly)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531752A>C , CM000664.2:g.178531752A>C GRCh38
NC_000002.11:g.179396479A>C , CM000664.1:g.179396479A>C GRCh37
NC_000002.10:g.179104725A>C NCBI36
NG_011618.3:g.304051T>G , LRG_391:g.304051T>G
NG_051363.1:g.13926A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.104863T>G (TTN) MANE Select NP_001254479.2:p.Cys34955Gly
ENST00000589042.5:c.104863T>G (TTN) MANE Select ENSP00000467141.1:p.Cys34955Gly
NM_001256850.1:c.99940T>G (TTN) NP_001243779.1:p.Cys33314Gly
NM_003319.4:c.77668T>G (TTN) NP_003310.4:p.Cys25890Gly
NM_133378.4:c.97159T>G (TTN) NP_596869.4:p.Cys32387Gly
NM_133432.3:c.78043T>G (TTN) NP_597676.3:p.Cys26015Gly
NM_133437.4:c.78244T>G (TTN) NP_597681.4:p.Cys26082Gly
NR_038271.1:n.446+8116A>C (TTN-AS1)
NR_038272.1:n.220-3980A>C (TTN-AS1)
ENST00000342175.10:c.78244T>G (TTN) ENSP00000340554.6:p.Cys26082Gly
ENST00000342175.11:c.78244T>G (TTN) ENSP00000340554.6:p.Cys26082Gly
ENST00000342992.10:c.97159T>G (TTN) ENSP00000343764.6:p.Cys32387Gly
ENST00000342992.11:c.97159T>G (TTN) ENSP00000343764.6:p.Cys32387Gly
ENST00000359218.10:c.78043T>G (TTN) ENSP00000352154.5:p.Cys26015Gly
ENST00000359218.9:c.78043T>G (TTN) ENSP00000352154.5:p.Cys26015Gly
ENST00000460472.6:c.77668T>G (TTN) ENSP00000434586.1:p.Cys25890Gly
ENST00000591111.5:c.99940T>G (TTN) ENSP00000465570.1:p.Cys33314Gly
ENST00000615779.4:c.99940T>G (TTN) ENSP00000483597.1:p.Cys33314Gly
XM_011511729.1:c.103960T>G (TTN) XP_011510031.1:p.Cys34654Gly
XM_011511730.1:c.77854T>G (TTN) XP_011510032.1:p.Cys25952Gly
XM_011511731.1:c.77713T>G (TTN) XP_011510033.1:p.Cys25905Gly
XM_017004819.1:c.103756T>G (TTN) XP_016860308.1:p.Cys34586Gly
XM_017004820.1:c.99154T>G (TTN) XP_016860309.1:p.Cys33052Gly
XM_017004821.1:c.99151T>G (TTN) XP_016860310.1:p.Cys33051Gly
XM_017004822.1:c.96193T>G (TTN) XP_016860311.1:p.Cys32065Gly
XM_017004823.1:c.77809T>G (TTN) XP_016860312.1:p.Cys25937Gly
XM_024453094.1:c.99304T>G (TTN) XP_024308862.1:p.Cys33102Gly
XM_024453095.1:c.99301T>G (TTN) XP_024308863.1:p.Cys33101Gly
XM_024453096.1:c.98734T>G (TTN) XP_024308864.1:p.Cys32912Gly
XM_024453097.1:c.96076T>G (TTN) XP_024308865.1:p.Cys32026Gly
XM_024453098.1:c.95995T>G (TTN) XP_024308866.1:p.Cys31999Gly
XM_024453099.1:c.77758T>G (TTN) XP_024308867.1:p.Cys25920Gly
XM_024453100.1:c.67612T>G (TTN) XP_024308868.1:p.Cys22538Gly