Canonical Allele Identifier: CA349529042
Community Standard Title: NM_001267550.2(TTN):c.56584C>T (p.Gln18862Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178599209G>A , CM000664.2:g.178599209G>A GRCh38
NC_000002.11:g.179463936G>A , CM000664.1:g.179463936G>A GRCh37
NC_000002.10:g.179172181G>A NCBI36
NG_011618.3:g.236594C>T , LRG_391:g.236594C>T
NG_051363.1:g.81383G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.56584C>T (TTN) MANE Select NP_001254479.2:p.Gln18862Ter
ENST00000589042.5:c.56584C>T (TTN) MANE Select ENSP00000467141.1:p.Gln18862Ter
NM_001256850.1:c.51661C>T (TTN) NP_001243779.1:p.Gln17221Ter
NM_003319.4:c.29389C>T (TTN) NP_003310.4:p.Gln9797Ter
NM_133378.4:c.48880C>T (TTN) NP_596869.4:p.Gln16294Ter
NM_133432.3:c.29764C>T (TTN) NP_597676.3:p.Gln9922Ter
NM_133437.4:c.29965C>T (TTN) NP_597681.4:p.Gln9989Ter
NR_038271.1:n.682+1528G>A (TTN-AS1)
NR_038272.1:n.3569-385G>A (TTN-AS1)
ENST00000342175.10:c.29965C>T (TTN) ENSP00000340554.6:p.Gln9989Ter
ENST00000342175.11:c.29965C>T (TTN) ENSP00000340554.6:p.Gln9989Ter
ENST00000342992.10:c.48880C>T (TTN) ENSP00000343764.6:p.Gln16294Ter
ENST00000342992.11:c.48880C>T (TTN) ENSP00000343764.6:p.Gln16294Ter
ENST00000359218.10:c.29764C>T (TTN) ENSP00000352154.5:p.Gln9922Ter
ENST00000359218.9:c.29764C>T (TTN) ENSP00000352154.5:p.Gln9922Ter
ENST00000460472.6:c.29389C>T (TTN) ENSP00000434586.1:p.Gln9797Ter
ENST00000591111.5:c.51661C>T (TTN) ENSP00000465570.1:p.Gln17221Ter
ENST00000615779.4:c.51661C>T (TTN) ENSP00000483597.1:p.Gln17221Ter
XM_011511729.1:c.55681C>T (TTN) XP_011510031.1:p.Gln18561Ter
XM_011511730.1:c.29575C>T (TTN) XP_011510032.1:p.Gln9859Ter
XM_011511731.1:c.29434C>T (TTN) XP_011510033.1:p.Gln9812Ter
XM_017004819.1:c.55477C>T (TTN) XP_016860308.1:p.Gln18493Ter
XM_017004820.1:c.50875C>T (TTN) XP_016860309.1:p.Gln16959Ter
XM_017004821.1:c.50872C>T (TTN) XP_016860310.1:p.Gln16958Ter
XM_017004822.1:c.47914C>T (TTN) XP_016860311.1:p.Gln15972Ter
XM_017004823.1:c.29530C>T (TTN) XP_016860312.1:p.Gln9844Ter
XM_024453094.1:c.51025C>T (TTN) XP_024308862.1:p.Gln17009Ter
XM_024453095.1:c.51022C>T (TTN) XP_024308863.1:p.Gln17008Ter
XM_024453096.1:c.50455C>T (TTN) XP_024308864.1:p.Gln16819Ter
XM_024453097.1:c.47797C>T (TTN) XP_024308865.1:p.Gln15933Ter
XM_024453098.1:c.47716C>T (TTN) XP_024308866.1:p.Gln15906Ter
XM_024453099.1:c.29479C>T (TTN) XP_024308867.1:p.Gln9827Ter
XM_024453100.1:c.19333C>T (TTN) XP_024308868.1:p.Gln6445Ter