Canonical Allele Identifier: CA349568655
Community Standard Title: NM_001267550.2(TTN):c.53047C>T (p.Gln17683Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178607641G>A , CM000664.2:g.178607641G>A GRCh38
NC_000002.11:g.179472368G>A , CM000664.1:g.179472368G>A GRCh37
NC_000002.10:g.179180613G>A NCBI36
NG_011618.3:g.228162C>T , LRG_391:g.228162C>T
NG_051363.1:g.89815G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.53047C>T (TTN) MANE Select NP_001254479.2:p.Gln17683Ter
ENST00000589042.5:c.53047C>T (TTN) MANE Select ENSP00000467141.1:p.Gln17683Ter
NM_001256850.1:c.48124C>T (TTN) NP_001243779.1:p.Gln16042Ter
NM_003319.4:c.25852C>T (TTN) NP_003310.4:p.Gln8618Ter
NM_133378.4:c.45343C>T (TTN) NP_596869.4:p.Gln15115Ter
NM_133432.3:c.26227C>T (TTN) NP_597676.3:p.Gln8743Ter
NM_133437.4:c.26428C>T (TTN) NP_597681.4:p.Gln8810Ter
NR_038271.1:n.683-526G>A (TTN-AS1)
ENST00000342175.10:c.26428C>T (TTN) ENSP00000340554.6:p.Gln8810Ter
ENST00000342175.11:c.26428C>T (TTN) ENSP00000340554.6:p.Gln8810Ter
ENST00000342992.10:c.45343C>T (TTN) ENSP00000343764.6:p.Gln15115Ter
ENST00000342992.11:c.45343C>T (TTN) ENSP00000343764.6:p.Gln15115Ter
ENST00000359218.10:c.26227C>T (TTN) ENSP00000352154.5:p.Gln8743Ter
ENST00000359218.9:c.26227C>T (TTN) ENSP00000352154.5:p.Gln8743Ter
ENST00000460472.6:c.25852C>T (TTN) ENSP00000434586.1:p.Gln8618Ter
ENST00000591111.5:c.48124C>T (TTN) ENSP00000465570.1:p.Gln16042Ter
ENST00000615779.4:c.48124C>T (TTN) ENSP00000483597.1:p.Gln16042Ter
XM_011511729.1:c.52144C>T (TTN) XP_011510031.1:p.Gln17382Ter
XM_011511730.1:c.26038C>T (TTN) XP_011510032.1:p.Gln8680Ter
XM_011511731.1:c.25897C>T (TTN) XP_011510033.1:p.Gln8633Ter
XM_017004819.1:c.51940C>T (TTN) XP_016860308.1:p.Gln17314Ter
XM_017004820.1:c.47338C>T (TTN) XP_016860309.1:p.Gln15780Ter
XM_017004821.1:c.47335C>T (TTN) XP_016860310.1:p.Gln15779Ter
XM_017004822.1:c.44377C>T (TTN) XP_016860311.1:p.Gln14793Ter
XM_017004823.1:c.25993C>T (TTN) XP_016860312.1:p.Gln8665Ter
XM_024453094.1:c.47488C>T (TTN) XP_024308862.1:p.Gln15830Ter
XM_024453095.1:c.47485C>T (TTN) XP_024308863.1:p.Gln15829Ter
XM_024453096.1:c.46918C>T (TTN) XP_024308864.1:p.Gln15640Ter
XM_024453097.1:c.44260C>T (TTN) XP_024308865.1:p.Gln14754Ter
XM_024453098.1:c.44179C>T (TTN) XP_024308866.1:p.Gln14727Ter
XM_024453099.1:c.25942C>T (TTN) XP_024308867.1:p.Gln8648Ter
XM_024453100.1:c.15796C>T (TTN) XP_024308868.1:p.Gln5266Ter