Canonical Allele Identifier: CA349456292

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544339T>A , CM000664.2:g.178544339T>A GRCh38
NC_000002.11:g.179409066T>A , CM000664.1:g.179409066T>A GRCh37
NC_000002.10:g.179117312T>A NCBI36
NG_011618.3:g.291464A>T , LRG_391:g.291464A>T
NG_051363.1:g.26513T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88186A>T (TTN) ENSP00000343764.6:p.Thr29396Ser
ENST00000342175.11:c.69271A>T (TTN) ENSP00000340554.6:p.Thr23091Ser
ENST00000359218.10:c.69070A>T (TTN) ENSP00000352154.5:p.Thr23024Ser
ENST00000342175.10:c.69271A>T (TTN) ENSP00000340554.6:p.Thr23091Ser
ENST00000342992.10:c.88186A>T (TTN) ENSP00000343764.6:p.Thr29396Ser
ENST00000359218.9:c.69070A>T (TTN) ENSP00000352154.5:p.Thr23024Ser
ENST00000460472.6:c.68695A>T (TTN) ENSP00000434586.1:p.Thr22899Ser
ENST00000589042.5:c.95890A>T (TTN) MANE Select ENSP00000467141.1:p.Thr31964Ser
ENST00000591111.5:c.90967A>T (TTN) ENSP00000465570.1:p.Thr30323Ser
ENST00000615779.4:c.90967A>T (TTN) ENSP00000483597.1:p.Thr30323Ser
NM_001256850.1:c.90967A>T (TTN) NP_001243779.1:p.Thr30323Ser
NM_001267550.2:c.95890A>T (TTN) MANE Select NP_001254479.2:p.Thr31964Ser
NM_003319.4:c.68695A>T (TTN) NP_003310.4:p.Thr22899Ser
NM_133378.4:c.88186A>T (TTN) NP_596869.4:p.Thr29396Ser
NM_133432.3:c.69070A>T (TTN) NP_597676.3:p.Thr23024Ser
NM_133437.4:c.69271A>T (TTN) NP_597681.4:p.Thr23091Ser
NR_038271.1:n.446+20703T>A (TTN-AS1)
NR_038272.1:n.2043+1978T>A (TTN-AS1)
XM_011511729.1:c.94987A>T (TTN) XP_011510031.1:p.Thr31663Ser
XM_011511730.1:c.68881A>T (TTN) XP_011510032.1:p.Thr22961Ser
XM_011511731.1:c.68740A>T (TTN) XP_011510033.1:p.Thr22914Ser
XM_017004819.1:c.94783A>T (TTN) XP_016860308.1:p.Thr31595Ser
XM_017004820.1:c.90181A>T (TTN) XP_016860309.1:p.Thr30061Ser
XM_017004821.1:c.90178A>T (TTN) XP_016860310.1:p.Thr30060Ser
XM_017004822.1:c.87220A>T (TTN) XP_016860311.1:p.Thr29074Ser
XM_017004823.1:c.68836A>T (TTN) XP_016860312.1:p.Thr22946Ser
XM_024453094.1:c.90331A>T (TTN) XP_024308862.1:p.Thr30111Ser
XM_024453095.1:c.90328A>T (TTN) XP_024308863.1:p.Thr30110Ser
XM_024453096.1:c.89761A>T (TTN) XP_024308864.1:p.Thr29921Ser
XM_024453097.1:c.87103A>T (TTN) XP_024308865.1:p.Thr29035Ser
XM_024453098.1:c.87022A>T (TTN) XP_024308866.1:p.Thr29008Ser
XM_024453099.1:c.68785A>T (TTN) XP_024308867.1:p.Thr22929Ser
XM_024453100.1:c.58639A>T (TTN) XP_024308868.1:p.Thr19547Ser