Canonical Allele Identifier: CA349579100
Community Standard Title: NM_001267550.2(TTN):c.81650G>A (p.Trp27217Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178564482C>T , CM000664.2:g.178564482C>T GRCh38
NC_000002.11:g.179429209C>T , CM000664.1:g.179429209C>T GRCh37
NC_000002.10:g.179137455C>T NCBI36
NG_011618.3:g.271321G>A , LRG_391:g.271321G>A
NG_051363.1:g.46656C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.81650G>A (TTN) MANE Select NP_001254479.2:p.Trp27217Ter
ENST00000589042.5:c.81650G>A (TTN) MANE Select ENSP00000467141.1:p.Trp27217Ter
NM_001256850.1:c.76727G>A (TTN) NP_001243779.1:p.Trp25576Ter
NM_003319.4:c.54455G>A (TTN) NP_003310.4:p.Trp18152Ter
NM_133378.4:c.73946G>A (TTN) NP_596869.4:p.Trp24649Ter
NM_133432.3:c.54830G>A (TTN) NP_597676.3:p.Trp18277Ter
NM_133437.4:c.55031G>A (TTN) NP_597681.4:p.Trp18344Ter
NR_038271.1:n.447-6818C>T (TTN-AS1)
NR_038272.1:n.2044-18090C>T (TTN-AS1)
ENST00000342175.10:c.55031G>A (TTN) ENSP00000340554.6:p.Trp18344Ter
ENST00000342175.11:c.55031G>A (TTN) ENSP00000340554.6:p.Trp18344Ter
ENST00000342992.10:c.73946G>A (TTN) ENSP00000343764.6:p.Trp24649Ter
ENST00000342992.11:c.73946G>A (TTN) ENSP00000343764.6:p.Trp24649Ter
ENST00000359218.10:c.54830G>A (TTN) ENSP00000352154.5:p.Trp18277Ter
ENST00000359218.9:c.54830G>A (TTN) ENSP00000352154.5:p.Trp18277Ter
ENST00000460472.6:c.54455G>A (TTN) ENSP00000434586.1:p.Trp18152Ter
ENST00000591111.5:c.76727G>A (TTN) ENSP00000465570.1:p.Trp25576Ter
ENST00000615779.4:c.76727G>A (TTN) ENSP00000483597.1:p.Trp25576Ter
XM_011511729.1:c.80747G>A (TTN) XP_011510031.1:p.Trp26916Ter
XM_011511730.1:c.54641G>A (TTN) XP_011510032.1:p.Trp18214Ter
XM_011511731.1:c.54500G>A (TTN) XP_011510033.1:p.Trp18167Ter
XM_017004819.1:c.80543G>A (TTN) XP_016860308.1:p.Trp26848Ter
XM_017004820.1:c.75941G>A (TTN) XP_016860309.1:p.Trp25314Ter
XM_017004821.1:c.75938G>A (TTN) XP_016860310.1:p.Trp25313Ter
XM_017004822.1:c.72980G>A (TTN) XP_016860311.1:p.Trp24327Ter
XM_017004823.1:c.54596G>A (TTN) XP_016860312.1:p.Trp18199Ter
XM_024453094.1:c.76091G>A (TTN) XP_024308862.1:p.Trp25364Ter
XM_024453095.1:c.76088G>A (TTN) XP_024308863.1:p.Trp25363Ter
XM_024453096.1:c.75521G>A (TTN) XP_024308864.1:p.Trp25174Ter
XM_024453097.1:c.72863G>A (TTN) XP_024308865.1:p.Trp24288Ter
XM_024453098.1:c.72782G>A (TTN) XP_024308866.1:p.Trp24261Ter
XM_024453099.1:c.54545G>A (TTN) XP_024308867.1:p.Trp18182Ter
XM_024453100.1:c.44399G>A (TTN) XP_024308868.1:p.Trp14800Ter