Canonical Allele Identifier: CA349500155

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593232T>C , CM000664.2:g.178593232T>C GRCh38
NC_000002.11:g.179457959T>C , CM000664.1:g.179457959T>C GRCh37
NC_000002.10:g.179166205T>C NCBI36
NG_011618.3:g.242571A>G , LRG_391:g.242571A>G
NG_051363.1:g.75406T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.51272A>G (TTN) ENSP00000343764.6:p.Glu17091Gly
ENST00000342175.11:c.32357A>G (TTN) ENSP00000340554.6:p.Glu10786Gly
ENST00000359218.10:c.32156A>G (TTN) ENSP00000352154.5:p.Glu10719Gly
ENST00000342175.10:c.32357A>G (TTN) ENSP00000340554.6:p.Glu10786Gly
ENST00000342992.10:c.51272A>G (TTN) ENSP00000343764.6:p.Glu17091Gly
ENST00000359218.9:c.32156A>G (TTN) ENSP00000352154.5:p.Glu10719Gly
ENST00000460472.6:c.31781A>G (TTN) ENSP00000434586.1:p.Glu10594Gly
ENST00000589042.5:c.58976A>G (TTN) MANE Select ENSP00000467141.1:p.Glu19659Gly
ENST00000591111.5:c.54053A>G (TTN) ENSP00000465570.1:p.Glu18018Gly
ENST00000615779.4:c.54053A>G (TTN) ENSP00000483597.1:p.Glu18018Gly
NM_001256850.1:c.54053A>G (TTN) NP_001243779.1:p.Glu18018Gly
NM_001267550.2:c.58976A>G (TTN) MANE Select NP_001254479.2:p.Glu19659Gly
NM_003319.4:c.31781A>G (TTN) NP_003310.4:p.Glu10594Gly
NM_133378.4:c.51272A>G (TTN) NP_596869.4:p.Glu17091Gly
NM_133432.3:c.32156A>G (TTN) NP_597676.3:p.Glu10719Gly
NM_133437.4:c.32357A>G (TTN) NP_597681.4:p.Glu10786Gly
NR_038271.1:n.597-4364T>C (TTN-AS1)
NR_038272.1:n.3364+1918T>C (TTN-AS1)
XM_011511729.1:c.58073A>G (TTN) XP_011510031.1:p.Glu19358Gly
XM_011511730.1:c.31967A>G (TTN) XP_011510032.1:p.Glu10656Gly
XM_011511731.1:c.31826A>G (TTN) XP_011510033.1:p.Glu10609Gly
XM_017004819.1:c.57869A>G (TTN) XP_016860308.1:p.Glu19290Gly
XM_017004820.1:c.53267A>G (TTN) XP_016860309.1:p.Glu17756Gly
XM_017004821.1:c.53264A>G (TTN) XP_016860310.1:p.Glu17755Gly
XM_017004822.1:c.50306A>G (TTN) XP_016860311.1:p.Glu16769Gly
XM_017004823.1:c.31922A>G (TTN) XP_016860312.1:p.Glu10641Gly
XM_024453094.1:c.53417A>G (TTN) XP_024308862.1:p.Glu17806Gly
XM_024453095.1:c.53414A>G (TTN) XP_024308863.1:p.Glu17805Gly
XM_024453096.1:c.52847A>G (TTN) XP_024308864.1:p.Glu17616Gly
XM_024453097.1:c.50189A>G (TTN) XP_024308865.1:p.Glu16730Gly
XM_024453098.1:c.50108A>G (TTN) XP_024308866.1:p.Glu16703Gly
XM_024453099.1:c.31871A>G (TTN) XP_024308867.1:p.Glu10624Gly
XM_024453100.1:c.21725A>G (TTN) XP_024308868.1:p.Glu7242Gly