Canonical Allele Identifier: CA349446307

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543334A>T , CM000664.2:g.178543334A>T GRCh38
NC_000002.11:g.179408061A>T , CM000664.1:g.179408061A>T GRCh37
NC_000002.10:g.179116307A>T NCBI36
NG_011618.3:g.292469T>A , LRG_391:g.292469T>A
NG_051363.1:g.25508A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88935T>A (TTN) ENSP00000343764.6:p.Asp29645Glu
ENST00000342175.11:c.70020T>A (TTN) ENSP00000340554.6:p.Asp23340Glu
ENST00000359218.10:c.69819T>A (TTN) ENSP00000352154.5:p.Asp23273Glu
ENST00000342175.10:c.70020T>A (TTN) ENSP00000340554.6:p.Asp23340Glu
ENST00000342992.10:c.88935T>A (TTN) ENSP00000343764.6:p.Asp29645Glu
ENST00000359218.9:c.69819T>A (TTN) ENSP00000352154.5:p.Asp23273Glu
ENST00000460472.6:c.69444T>A (TTN) ENSP00000434586.1:p.Asp23148Glu
ENST00000589042.5:c.96639T>A (TTN) MANE Select ENSP00000467141.1:p.Asp32213Glu
ENST00000591111.5:c.91716T>A (TTN) ENSP00000465570.1:p.Asp30572Glu
ENST00000615779.4:c.91716T>A (TTN) ENSP00000483597.1:p.Asp30572Glu
NM_001256850.1:c.91716T>A (TTN) NP_001243779.1:p.Asp30572Glu
NM_001267550.2:c.96639T>A (TTN) MANE Select NP_001254479.2:p.Asp32213Glu
NM_003319.4:c.69444T>A (TTN) NP_003310.4:p.Asp23148Glu
NM_133378.4:c.88935T>A (TTN) NP_596869.4:p.Asp29645Glu
NM_133432.3:c.69819T>A (TTN) NP_597676.3:p.Asp23273Glu
NM_133437.4:c.70020T>A (TTN) NP_597681.4:p.Asp23340Glu
NR_038271.1:n.446+19698A>T (TTN-AS1)
NR_038272.1:n.2043+973A>T (TTN-AS1)
XM_011511729.1:c.95736T>A (TTN) XP_011510031.1:p.Asp31912Glu
XM_011511730.1:c.69630T>A (TTN) XP_011510032.1:p.Asp23210Glu
XM_011511731.1:c.69489T>A (TTN) XP_011510033.1:p.Asp23163Glu
XM_017004819.1:c.95532T>A (TTN) XP_016860308.1:p.Asp31844Glu
XM_017004820.1:c.90930T>A (TTN) XP_016860309.1:p.Asp30310Glu
XM_017004821.1:c.90927T>A (TTN) XP_016860310.1:p.Asp30309Glu
XM_017004822.1:c.87969T>A (TTN) XP_016860311.1:p.Asp29323Glu
XM_017004823.1:c.69585T>A (TTN) XP_016860312.1:p.Asp23195Glu
XM_024453094.1:c.91080T>A (TTN) XP_024308862.1:p.Asp30360Glu
XM_024453095.1:c.91077T>A (TTN) XP_024308863.1:p.Asp30359Glu
XM_024453096.1:c.90510T>A (TTN) XP_024308864.1:p.Asp30170Glu
XM_024453097.1:c.87852T>A (TTN) XP_024308865.1:p.Asp29284Glu
XM_024453098.1:c.87771T>A (TTN) XP_024308866.1:p.Asp29257Glu
XM_024453099.1:c.69534T>A (TTN) XP_024308867.1:p.Asp23178Glu
XM_024453100.1:c.59388T>A (TTN) XP_024308868.1:p.Asp19796Glu