Canonical Allele Identifier: CA311208
Community Standard Title: NM_001267550.2(TTN):c.105083C>T (p.Thr35028Met)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531532G>A , CM000664.2:g.178531532G>A GRCh38
NC_000002.11:g.179396259G>A , CM000664.1:g.179396259G>A GRCh37
NC_000002.10:g.179104505G>A NCBI36
NG_011618.3:g.304271C>T , LRG_391:g.304271C>T
NG_051363.1:g.13706G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.105083C>T (TTN) MANE Select NP_001254479.2:p.Thr35028Met
ENST00000589042.5:c.105083C>T (TTN) MANE Select ENSP00000467141.1:p.Thr35028Met
NM_001256850.1:c.100160C>T (TTN) NP_001243779.1:p.Thr33387Met
NM_003319.4:c.77888C>T (TTN) NP_003310.4:p.Thr25963Met
NM_133378.4:c.97379C>T (TTN) NP_596869.4:p.Thr32460Met
NM_133432.3:c.78263C>T (TTN) NP_597676.3:p.Thr26088Met
NM_133437.4:c.78464C>T (TTN) NP_597681.4:p.Thr26155Met
NR_038271.1:n.446+7896G>A (TTN-AS1)
NR_038272.1:n.220-4200G>A (TTN-AS1)
ENST00000342175.10:c.78464C>T (TTN) ENSP00000340554.6:p.Thr26155Met
ENST00000342175.11:c.78464C>T (TTN) ENSP00000340554.6:p.Thr26155Met
ENST00000342992.10:c.97379C>T (TTN) ENSP00000343764.6:p.Thr32460Met
ENST00000342992.11:c.97379C>T (TTN) ENSP00000343764.6:p.Thr32460Met
ENST00000359218.10:c.78263C>T (TTN) ENSP00000352154.5:p.Thr26088Met
ENST00000359218.9:c.78263C>T (TTN) ENSP00000352154.5:p.Thr26088Met
ENST00000460472.6:c.77888C>T (TTN) ENSP00000434586.1:p.Thr25963Met
ENST00000591111.5:c.100160C>T (TTN) ENSP00000465570.1:p.Thr33387Met
ENST00000615779.4:c.100160C>T (TTN) ENSP00000483597.1:p.Thr33387Met
XM_011511729.1:c.104180C>T (TTN) XP_011510031.1:p.Thr34727Met
XM_011511730.1:c.78074C>T (TTN) XP_011510032.1:p.Thr26025Met
XM_011511731.1:c.77933C>T (TTN) XP_011510033.1:p.Thr25978Met
XM_017004819.1:c.103976C>T (TTN) XP_016860308.1:p.Thr34659Met
XM_017004820.1:c.99374C>T (TTN) XP_016860309.1:p.Thr33125Met
XM_017004821.1:c.99371C>T (TTN) XP_016860310.1:p.Thr33124Met
XM_017004822.1:c.96413C>T (TTN) XP_016860311.1:p.Thr32138Met
XM_017004823.1:c.78029C>T (TTN) XP_016860312.1:p.Thr26010Met
XM_024453094.1:c.99524C>T (TTN) XP_024308862.1:p.Thr33175Met
XM_024453095.1:c.99521C>T (TTN) XP_024308863.1:p.Thr33174Met
XM_024453096.1:c.98954C>T (TTN) XP_024308864.1:p.Thr32985Met
XM_024453097.1:c.96296C>T (TTN) XP_024308865.1:p.Thr32099Met
XM_024453098.1:c.96215C>T (TTN) XP_024308866.1:p.Thr32072Met
XM_024453099.1:c.77978C>T (TTN) XP_024308867.1:p.Thr25993Met
XM_024453100.1:c.67832C>T (TTN) XP_024308868.1:p.Thr22611Met