Canonical Allele Identifier: CA349607720

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614661T>A , CM000664.2:g.178614661T>A GRCh38
NC_000002.11:g.179479388T>A , CM000664.1:g.179479388T>A GRCh37
NC_000002.10:g.179187633T>A NCBI36
NG_011618.3:g.221142A>T , LRG_391:g.221142A>T
NG_051363.1:g.96835T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41149A>T (TTN) ENSP00000343764.6:p.Lys13717Ter
ENST00000342175.11:c.22234A>T (TTN) ENSP00000340554.6:p.Lys7412Ter
ENST00000359218.10:c.22033A>T (TTN) ENSP00000352154.5:p.Lys7345Ter
ENST00000342175.10:c.22234A>T (TTN) ENSP00000340554.6:p.Lys7412Ter
ENST00000342992.10:c.41149A>T (TTN) ENSP00000343764.6:p.Lys13717Ter
ENST00000359218.9:c.22033A>T (TTN) ENSP00000352154.5:p.Lys7345Ter
ENST00000460472.6:c.21658A>T (TTN) ENSP00000434586.1:p.Lys7220Ter
ENST00000589042.5:c.48853A>T (TTN) MANE Select ENSP00000467141.1:p.Lys16285Ter
ENST00000591111.5:c.43930A>T (TTN) ENSP00000465570.1:p.Lys14644Ter
ENST00000615779.4:c.43930A>T (TTN) ENSP00000483597.1:p.Lys14644Ter
NM_001256850.1:c.43930A>T (TTN) NP_001243779.1:p.Lys14644Ter
NM_001267550.2:c.48853A>T (TTN) MANE Select NP_001254479.2:p.Lys16285Ter
NM_003319.4:c.21658A>T (TTN) NP_003310.4:p.Lys7220Ter
NM_133378.4:c.41149A>T (TTN) NP_596869.4:p.Lys13717Ter
NM_133432.3:c.22033A>T (TTN) NP_597676.3:p.Lys7345Ter
NM_133437.4:c.22234A>T (TTN) NP_597681.4:p.Lys7412Ter
NR_038271.1:n.1409T>A (TTN-AS1)
XM_011511729.1:c.47950A>T (TTN) XP_011510031.1:p.Lys15984Ter
XM_011511730.1:c.21844A>T (TTN) XP_011510032.1:p.Lys7282Ter
XM_011511731.1:c.21703A>T (TTN) XP_011510033.1:p.Lys7235Ter
XM_017004819.1:c.47746A>T (TTN) XP_016860308.1:p.Lys15916Ter
XM_017004820.1:c.43144A>T (TTN) XP_016860309.1:p.Lys14382Ter
XM_017004821.1:c.43141A>T (TTN) XP_016860310.1:p.Lys14381Ter
XM_017004822.1:c.40183A>T (TTN) XP_016860311.1:p.Lys13395Ter
XM_017004823.1:c.21799A>T (TTN) XP_016860312.1:p.Lys7267Ter
XM_024453094.1:c.43294A>T (TTN) XP_024308862.1:p.Lys14432Ter
XM_024453095.1:c.43291A>T (TTN) XP_024308863.1:p.Lys14431Ter
XM_024453096.1:c.42724A>T (TTN) XP_024308864.1:p.Lys14242Ter
XM_024453097.1:c.40066A>T (TTN) XP_024308865.1:p.Lys13356Ter
XM_024453098.1:c.39985A>T (TTN) XP_024308866.1:p.Lys13329Ter
XM_024453099.1:c.21748A>T (TTN) XP_024308867.1:p.Lys7250Ter
XM_024453100.1:c.11602A>T (TTN) XP_024308868.1:p.Lys3868Ter