Canonical Allele Identifier: CA349607730

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614664C>A , CM000664.2:g.178614664C>A GRCh38
NC_000002.11:g.179479391C>A , CM000664.1:g.179479391C>A GRCh37
NC_000002.10:g.179187636C>A NCBI36
NG_011618.3:g.221139G>T , LRG_391:g.221139G>T
NG_051363.1:g.96838C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41146G>T (TTN) ENSP00000343764.6:p.Gly13716Ter
ENST00000342175.11:c.22231G>T (TTN) ENSP00000340554.6:p.Gly7411Ter
ENST00000359218.10:c.22030G>T (TTN) ENSP00000352154.5:p.Gly7344Ter
ENST00000342175.10:c.22231G>T (TTN) ENSP00000340554.6:p.Gly7411Ter
ENST00000342992.10:c.41146G>T (TTN) ENSP00000343764.6:p.Gly13716Ter
ENST00000359218.9:c.22030G>T (TTN) ENSP00000352154.5:p.Gly7344Ter
ENST00000460472.6:c.21655G>T (TTN) ENSP00000434586.1:p.Gly7219Ter
ENST00000589042.5:c.48850G>T (TTN) MANE Select ENSP00000467141.1:p.Gly16284Ter
ENST00000591111.5:c.43927G>T (TTN) ENSP00000465570.1:p.Gly14643Ter
ENST00000615779.4:c.43927G>T (TTN) ENSP00000483597.1:p.Gly14643Ter
NM_001256850.1:c.43927G>T (TTN) NP_001243779.1:p.Gly14643Ter
NM_001267550.2:c.48850G>T (TTN) MANE Select NP_001254479.2:p.Gly16284Ter
NM_003319.4:c.21655G>T (TTN) NP_003310.4:p.Gly7219Ter
NM_133378.4:c.41146G>T (TTN) NP_596869.4:p.Gly13716Ter
NM_133432.3:c.22030G>T (TTN) NP_597676.3:p.Gly7344Ter
NM_133437.4:c.22231G>T (TTN) NP_597681.4:p.Gly7411Ter
NR_038271.1:n.1412C>A (TTN-AS1)
XM_011511729.1:c.47947G>T (TTN) XP_011510031.1:p.Gly15983Ter
XM_011511730.1:c.21841G>T (TTN) XP_011510032.1:p.Gly7281Ter
XM_011511731.1:c.21700G>T (TTN) XP_011510033.1:p.Gly7234Ter
XM_017004819.1:c.47743G>T (TTN) XP_016860308.1:p.Gly15915Ter
XM_017004820.1:c.43141G>T (TTN) XP_016860309.1:p.Gly14381Ter
XM_017004821.1:c.43138G>T (TTN) XP_016860310.1:p.Gly14380Ter
XM_017004822.1:c.40180G>T (TTN) XP_016860311.1:p.Gly13394Ter
XM_017004823.1:c.21796G>T (TTN) XP_016860312.1:p.Gly7266Ter
XM_024453094.1:c.43291G>T (TTN) XP_024308862.1:p.Gly14431Ter
XM_024453095.1:c.43288G>T (TTN) XP_024308863.1:p.Gly14430Ter
XM_024453096.1:c.42721G>T (TTN) XP_024308864.1:p.Gly14241Ter
XM_024453097.1:c.40063G>T (TTN) XP_024308865.1:p.Gly13355Ter
XM_024453098.1:c.39982G>T (TTN) XP_024308866.1:p.Gly13328Ter
XM_024453099.1:c.21745G>T (TTN) XP_024308867.1:p.Gly7249Ter
XM_024453100.1:c.11599G>T (TTN) XP_024308868.1:p.Gly3867Ter