Canonical Allele Identifier: CA349425571
Community Standard Title: NM_001267550.2(TTN):c.66885G>A (p.Trp22295Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178580494C>T , CM000664.2:g.178580494C>T GRCh38
NC_000002.11:g.179445221C>T , CM000664.1:g.179445221C>T GRCh37
NC_000002.10:g.179153467C>T NCBI36
NG_011618.3:g.255309G>A , LRG_391:g.255309G>A
NG_051363.1:g.62668C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.66885G>A (TTN) MANE Select NP_001254479.2:p.Trp22295Ter
ENST00000589042.5:c.66885G>A (TTN) MANE Select ENSP00000467141.1:p.Trp22295Ter
NM_001256850.1:c.61962G>A (TTN) NP_001243779.1:p.Trp20654Ter
NM_003319.4:c.39690G>A (TTN) NP_003310.4:p.Trp13230Ter
NM_133378.4:c.59181G>A (TTN) NP_596869.4:p.Trp19727Ter
NM_133432.3:c.40065G>A (TTN) NP_597676.3:p.Trp13355Ter
NM_133437.4:c.40266G>A (TTN) NP_597681.4:p.Trp13422Ter
NR_038271.1:n.596+9045C>T (TTN-AS1)
NR_038272.1:n.2044-2078C>T (TTN-AS1)
ENST00000342175.10:c.40266G>A (TTN) ENSP00000340554.6:p.Trp13422Ter
ENST00000342175.11:c.40266G>A (TTN) ENSP00000340554.6:p.Trp13422Ter
ENST00000342992.10:c.59181G>A (TTN) ENSP00000343764.6:p.Trp19727Ter
ENST00000342992.11:c.59181G>A (TTN) ENSP00000343764.6:p.Trp19727Ter
ENST00000359218.10:c.40065G>A (TTN) ENSP00000352154.5:p.Trp13355Ter
ENST00000359218.9:c.40065G>A (TTN) ENSP00000352154.5:p.Trp13355Ter
ENST00000460472.6:c.39690G>A (TTN) ENSP00000434586.1:p.Trp13230Ter
ENST00000591111.5:c.61962G>A (TTN) ENSP00000465570.1:p.Trp20654Ter
ENST00000615779.4:c.61962G>A (TTN) ENSP00000483597.1:p.Trp20654Ter
XM_011511729.1:c.65982G>A (TTN) XP_011510031.1:p.Trp21994Ter
XM_011511730.1:c.39876G>A (TTN) XP_011510032.1:p.Trp13292Ter
XM_011511731.1:c.39735G>A (TTN) XP_011510033.1:p.Trp13245Ter
XM_017004819.1:c.65778G>A (TTN) XP_016860308.1:p.Trp21926Ter
XM_017004820.1:c.61176G>A (TTN) XP_016860309.1:p.Trp20392Ter
XM_017004821.1:c.61173G>A (TTN) XP_016860310.1:p.Trp20391Ter
XM_017004822.1:c.58215G>A (TTN) XP_016860311.1:p.Trp19405Ter
XM_017004823.1:c.39831G>A (TTN) XP_016860312.1:p.Trp13277Ter
XM_024453094.1:c.61326G>A (TTN) XP_024308862.1:p.Trp20442Ter
XM_024453095.1:c.61323G>A (TTN) XP_024308863.1:p.Trp20441Ter
XM_024453096.1:c.60756G>A (TTN) XP_024308864.1:p.Trp20252Ter
XM_024453097.1:c.58098G>A (TTN) XP_024308865.1:p.Trp19366Ter
XM_024453098.1:c.58017G>A (TTN) XP_024308866.1:p.Trp19339Ter
XM_024453099.1:c.39780G>A (TTN) XP_024308867.1:p.Trp13260Ter
XM_024453100.1:c.29634G>A (TTN) XP_024308868.1:p.Trp9878Ter