Canonical Allele Identifier: CA349536555
Community Standard Title: NM_001267550.2(TTN):c.55927C>T (p.Gln18643Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178600977G>A , CM000664.2:g.178600977G>A GRCh38
NC_000002.11:g.179465704G>A , CM000664.1:g.179465704G>A GRCh37
NC_000002.10:g.179173949G>A NCBI36
NG_011618.3:g.234826C>T , LRG_391:g.234826C>T
NG_051363.1:g.83151G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.55927C>T (TTN) MANE Select NP_001254479.2:p.Gln18643Ter
ENST00000589042.5:c.55927C>T (TTN) MANE Select ENSP00000467141.1:p.Gln18643Ter
NM_001256850.1:c.51004C>T (TTN) NP_001243779.1:p.Gln17002Ter
NM_003319.4:c.28732C>T (TTN) NP_003310.4:p.Gln9578Ter
NM_133378.4:c.48223C>T (TTN) NP_596869.4:p.Gln16075Ter
NM_133432.3:c.29107C>T (TTN) NP_597676.3:p.Gln9703Ter
NM_133437.4:c.29308C>T (TTN) NP_597681.4:p.Gln9770Ter
NR_038271.1:n.682+3296G>A (TTN-AS1)
NR_038272.1:n.3917+310G>A (TTN-AS1)
ENST00000342175.10:c.29308C>T (TTN) ENSP00000340554.6:p.Gln9770Ter
ENST00000342175.11:c.29308C>T (TTN) ENSP00000340554.6:p.Gln9770Ter
ENST00000342992.10:c.48223C>T (TTN) ENSP00000343764.6:p.Gln16075Ter
ENST00000342992.11:c.48223C>T (TTN) ENSP00000343764.6:p.Gln16075Ter
ENST00000359218.10:c.29107C>T (TTN) ENSP00000352154.5:p.Gln9703Ter
ENST00000359218.9:c.29107C>T (TTN) ENSP00000352154.5:p.Gln9703Ter
ENST00000460472.6:c.28732C>T (TTN) ENSP00000434586.1:p.Gln9578Ter
ENST00000591111.5:c.51004C>T (TTN) ENSP00000465570.1:p.Gln17002Ter
ENST00000615779.4:c.51004C>T (TTN) ENSP00000483597.1:p.Gln17002Ter
XM_011511729.1:c.55024C>T (TTN) XP_011510031.1:p.Gln18342Ter
XM_011511730.1:c.28918C>T (TTN) XP_011510032.1:p.Gln9640Ter
XM_011511731.1:c.28777C>T (TTN) XP_011510033.1:p.Gln9593Ter
XM_017004819.1:c.54820C>T (TTN) XP_016860308.1:p.Gln18274Ter
XM_017004820.1:c.50218C>T (TTN) XP_016860309.1:p.Gln16740Ter
XM_017004821.1:c.50215C>T (TTN) XP_016860310.1:p.Gln16739Ter
XM_017004822.1:c.47257C>T (TTN) XP_016860311.1:p.Gln15753Ter
XM_017004823.1:c.28873C>T (TTN) XP_016860312.1:p.Gln9625Ter
XM_024453094.1:c.50368C>T (TTN) XP_024308862.1:p.Gln16790Ter
XM_024453095.1:c.50365C>T (TTN) XP_024308863.1:p.Gln16789Ter
XM_024453096.1:c.49798C>T (TTN) XP_024308864.1:p.Gln16600Ter
XM_024453097.1:c.47140C>T (TTN) XP_024308865.1:p.Gln15714Ter
XM_024453098.1:c.47059C>T (TTN) XP_024308866.1:p.Gln15687Ter
XM_024453099.1:c.28822C>T (TTN) XP_024308867.1:p.Gln9608Ter
XM_024453100.1:c.18676C>T (TTN) XP_024308868.1:p.Gln6226Ter