Canonical Allele Identifier: CA349608874
Community Standard Title: NM_001267550.2(TTN):c.48605G>A (p.Trp16202Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178615340C>T , CM000664.2:g.178615340C>T GRCh38
NC_000002.11:g.179480067C>T , CM000664.1:g.179480067C>T GRCh37
NC_000002.10:g.179188312C>T NCBI36
NG_011618.3:g.220463G>A , LRG_391:g.220463G>A
NG_051363.1:g.97514C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.48605G>A (TTN) MANE Select NP_001254479.2:p.Trp16202Ter
ENST00000589042.5:c.48605G>A (TTN) MANE Select ENSP00000467141.1:p.Trp16202Ter
NM_001256850.1:c.43682G>A (TTN) NP_001243779.1:p.Trp14561Ter
NM_003319.4:c.21410G>A (TTN) NP_003310.4:p.Trp7137Ter
NM_133378.4:c.40901G>A (TTN) NP_596869.4:p.Trp13634Ter
NM_133432.3:c.21785G>A (TTN) NP_597676.3:p.Trp7262Ter
NM_133437.4:c.21986G>A (TTN) NP_597681.4:p.Trp7329Ter
NR_038271.1:n.1570C>T (TTN-AS1)
ENST00000342175.10:c.21986G>A (TTN) ENSP00000340554.6:p.Trp7329Ter
ENST00000342175.11:c.21986G>A (TTN) ENSP00000340554.6:p.Trp7329Ter
ENST00000342992.10:c.40901G>A (TTN) ENSP00000343764.6:p.Trp13634Ter
ENST00000342992.11:c.40901G>A (TTN) ENSP00000343764.6:p.Trp13634Ter
ENST00000359218.10:c.21785G>A (TTN) ENSP00000352154.5:p.Trp7262Ter
ENST00000359218.9:c.21785G>A (TTN) ENSP00000352154.5:p.Trp7262Ter
ENST00000460472.6:c.21410G>A (TTN) ENSP00000434586.1:p.Trp7137Ter
ENST00000591111.5:c.43682G>A (TTN) ENSP00000465570.1:p.Trp14561Ter
ENST00000615779.4:c.43682G>A (TTN) ENSP00000483597.1:p.Trp14561Ter
XM_011511729.1:c.47702G>A (TTN) XP_011510031.1:p.Trp15901Ter
XM_011511730.1:c.21596G>A (TTN) XP_011510032.1:p.Trp7199Ter
XM_011511731.1:c.21455G>A (TTN) XP_011510033.1:p.Trp7152Ter
XM_017004819.1:c.47498G>A (TTN) XP_016860308.1:p.Trp15833Ter
XM_017004820.1:c.42896G>A (TTN) XP_016860309.1:p.Trp14299Ter
XM_017004821.1:c.42893G>A (TTN) XP_016860310.1:p.Trp14298Ter
XM_017004822.1:c.39935G>A (TTN) XP_016860311.1:p.Trp13312Ter
XM_017004823.1:c.21551G>A (TTN) XP_016860312.1:p.Trp7184Ter
XM_024453094.1:c.43046G>A (TTN) XP_024308862.1:p.Trp14349Ter
XM_024453095.1:c.43043G>A (TTN) XP_024308863.1:p.Trp14348Ter
XM_024453096.1:c.42476G>A (TTN) XP_024308864.1:p.Trp14159Ter
XM_024453097.1:c.39818G>A (TTN) XP_024308865.1:p.Trp13273Ter
XM_024453098.1:c.39737G>A (TTN) XP_024308866.1:p.Trp13246Ter
XM_024453099.1:c.21500G>A (TTN) XP_024308867.1:p.Trp7167Ter
XM_024453100.1:c.11354G>A (TTN) XP_024308868.1:p.Trp3785Ter