Canonical Allele Identifier: CA349607252

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614550T>A , CM000664.2:g.178614550T>A GRCh38
NC_000002.11:g.179479277T>A , CM000664.1:g.179479277T>A GRCh37
NC_000002.10:g.179187522T>A NCBI36
NG_011618.3:g.221253A>T , LRG_391:g.221253A>T
NG_051363.1:g.96724T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41260A>T (TTN) ENSP00000343764.6:p.Lys13754Ter
ENST00000342175.11:c.22345A>T (TTN) ENSP00000340554.6:p.Lys7449Ter
ENST00000359218.10:c.22144A>T (TTN) ENSP00000352154.5:p.Lys7382Ter
ENST00000342175.10:c.22345A>T (TTN) ENSP00000340554.6:p.Lys7449Ter
ENST00000342992.10:c.41260A>T (TTN) ENSP00000343764.6:p.Lys13754Ter
ENST00000359218.9:c.22144A>T (TTN) ENSP00000352154.5:p.Lys7382Ter
ENST00000460472.6:c.21769A>T (TTN) ENSP00000434586.1:p.Lys7257Ter
ENST00000589042.5:c.48964A>T (TTN) MANE Select ENSP00000467141.1:p.Lys16322Ter
ENST00000591111.5:c.44041A>T (TTN) ENSP00000465570.1:p.Lys14681Ter
ENST00000615779.4:c.44041A>T (TTN) ENSP00000483597.1:p.Lys14681Ter
NM_001256850.1:c.44041A>T (TTN) NP_001243779.1:p.Lys14681Ter
NM_001267550.2:c.48964A>T (TTN) MANE Select NP_001254479.2:p.Lys16322Ter
NM_003319.4:c.21769A>T (TTN) NP_003310.4:p.Lys7257Ter
NM_133378.4:c.41260A>T (TTN) NP_596869.4:p.Lys13754Ter
NM_133432.3:c.22144A>T (TTN) NP_597676.3:p.Lys7382Ter
NM_133437.4:c.22345A>T (TTN) NP_597681.4:p.Lys7449Ter
NR_038271.1:n.1298T>A (TTN-AS1)
XM_011511729.1:c.48061A>T (TTN) XP_011510031.1:p.Lys16021Ter
XM_011511730.1:c.21955A>T (TTN) XP_011510032.1:p.Lys7319Ter
XM_011511731.1:c.21814A>T (TTN) XP_011510033.1:p.Lys7272Ter
XM_017004819.1:c.47857A>T (TTN) XP_016860308.1:p.Lys15953Ter
XM_017004820.1:c.43255A>T (TTN) XP_016860309.1:p.Lys14419Ter
XM_017004821.1:c.43252A>T (TTN) XP_016860310.1:p.Lys14418Ter
XM_017004822.1:c.40294A>T (TTN) XP_016860311.1:p.Lys13432Ter
XM_017004823.1:c.21910A>T (TTN) XP_016860312.1:p.Lys7304Ter
XM_024453094.1:c.43405A>T (TTN) XP_024308862.1:p.Lys14469Ter
XM_024453095.1:c.43402A>T (TTN) XP_024308863.1:p.Lys14468Ter
XM_024453096.1:c.42835A>T (TTN) XP_024308864.1:p.Lys14279Ter
XM_024453097.1:c.40177A>T (TTN) XP_024308865.1:p.Lys13393Ter
XM_024453098.1:c.40096A>T (TTN) XP_024308866.1:p.Lys13366Ter
XM_024453099.1:c.21859A>T (TTN) XP_024308867.1:p.Lys7287Ter
XM_024453100.1:c.11713A>T (TTN) XP_024308868.1:p.Lys3905Ter