Canonical Allele Identifier: CA349513480
Community Standard Title: NM_001267550.2(TTN):c.90152G>A (p.Trp30051Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552748C>T , CM000664.2:g.178552748C>T GRCh38
NC_000002.11:g.179417475C>T , CM000664.1:g.179417475C>T GRCh37
NC_000002.10:g.179125721C>T NCBI36
NG_011618.3:g.283055G>A , LRG_391:g.283055G>A
NG_051363.1:g.34922C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.90152G>A (TTN) MANE Select NP_001254479.2:p.Trp30051Ter
ENST00000589042.5:c.90152G>A (TTN) MANE Select ENSP00000467141.1:p.Trp30051Ter
NM_001256850.1:c.85229G>A (TTN) NP_001243779.1:p.Trp28410Ter
NM_003319.4:c.62957G>A (TTN) NP_003310.4:p.Trp20986Ter
NM_133378.4:c.82448G>A (TTN) NP_596869.4:p.Trp27483Ter
NM_133432.3:c.63332G>A (TTN) NP_597676.3:p.Trp21111Ter
NM_133437.4:c.63533G>A (TTN) NP_597681.4:p.Trp21178Ter
NR_038271.1:n.447-18552C>T (TTN-AS1)
NR_038272.1:n.2043+10387C>T (TTN-AS1)
ENST00000342175.10:c.63533G>A (TTN) ENSP00000340554.6:p.Trp21178Ter
ENST00000342175.11:c.63533G>A (TTN) ENSP00000340554.6:p.Trp21178Ter
ENST00000342992.10:c.82448G>A (TTN) ENSP00000343764.6:p.Trp27483Ter
ENST00000342992.11:c.82448G>A (TTN) ENSP00000343764.6:p.Trp27483Ter
ENST00000359218.10:c.63332G>A (TTN) ENSP00000352154.5:p.Trp21111Ter
ENST00000359218.9:c.63332G>A (TTN) ENSP00000352154.5:p.Trp21111Ter
ENST00000460472.6:c.62957G>A (TTN) ENSP00000434586.1:p.Trp20986Ter
ENST00000591111.5:c.85229G>A (TTN) ENSP00000465570.1:p.Trp28410Ter
ENST00000615779.4:c.85229G>A (TTN) ENSP00000483597.1:p.Trp28410Ter
XM_011511729.1:c.89249G>A (TTN) XP_011510031.1:p.Trp29750Ter
XM_011511730.1:c.63143G>A (TTN) XP_011510032.1:p.Trp21048Ter
XM_011511731.1:c.63002G>A (TTN) XP_011510033.1:p.Trp21001Ter
XM_017004819.1:c.89045G>A (TTN) XP_016860308.1:p.Trp29682Ter
XM_017004820.1:c.84443G>A (TTN) XP_016860309.1:p.Trp28148Ter
XM_017004821.1:c.84440G>A (TTN) XP_016860310.1:p.Trp28147Ter
XM_017004822.1:c.81482G>A (TTN) XP_016860311.1:p.Trp27161Ter
XM_017004823.1:c.63098G>A (TTN) XP_016860312.1:p.Trp21033Ter
XM_024453094.1:c.84593G>A (TTN) XP_024308862.1:p.Trp28198Ter
XM_024453095.1:c.84590G>A (TTN) XP_024308863.1:p.Trp28197Ter
XM_024453096.1:c.84023G>A (TTN) XP_024308864.1:p.Trp28008Ter
XM_024453097.1:c.81365G>A (TTN) XP_024308865.1:p.Trp27122Ter
XM_024453098.1:c.81284G>A (TTN) XP_024308866.1:p.Trp27095Ter
XM_024453099.1:c.63047G>A (TTN) XP_024308867.1:p.Trp21016Ter
XM_024453100.1:c.52901G>A (TTN) XP_024308868.1:p.Trp17634Ter