Canonical Allele Identifier: CA349451284

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543933T>C , CM000664.2:g.178543933T>C GRCh38
NC_000002.11:g.179408660T>C , CM000664.1:g.179408660T>C GRCh37
NC_000002.10:g.179116906T>C NCBI36
NG_011618.3:g.291870A>G , LRG_391:g.291870A>G
NG_051363.1:g.26107T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88507A>G (TTN) ENSP00000343764.6:p.Ile29503Val
ENST00000342175.11:c.69592A>G (TTN) ENSP00000340554.6:p.Ile23198Val
ENST00000359218.10:c.69391A>G (TTN) ENSP00000352154.5:p.Ile23131Val
ENST00000342175.10:c.69592A>G (TTN) ENSP00000340554.6:p.Ile23198Val
ENST00000342992.10:c.88507A>G (TTN) ENSP00000343764.6:p.Ile29503Val
ENST00000359218.9:c.69391A>G (TTN) ENSP00000352154.5:p.Ile23131Val
ENST00000460472.6:c.69016A>G (TTN) ENSP00000434586.1:p.Ile23006Val
ENST00000589042.5:c.96211A>G (TTN) MANE Select ENSP00000467141.1:p.Ile32071Val
ENST00000591111.5:c.91288A>G (TTN) ENSP00000465570.1:p.Ile30430Val
ENST00000615779.4:c.91288A>G (TTN) ENSP00000483597.1:p.Ile30430Val
NM_001256850.1:c.91288A>G (TTN) NP_001243779.1:p.Ile30430Val
NM_001267550.2:c.96211A>G (TTN) MANE Select NP_001254479.2:p.Ile32071Val
NM_003319.4:c.69016A>G (TTN) NP_003310.4:p.Ile23006Val
NM_133378.4:c.88507A>G (TTN) NP_596869.4:p.Ile29503Val
NM_133432.3:c.69391A>G (TTN) NP_597676.3:p.Ile23131Val
NM_133437.4:c.69592A>G (TTN) NP_597681.4:p.Ile23198Val
NR_038271.1:n.446+20297T>C (TTN-AS1)
NR_038272.1:n.2043+1572T>C (TTN-AS1)
XM_011511729.1:c.95308A>G (TTN) XP_011510031.1:p.Ile31770Val
XM_011511730.1:c.69202A>G (TTN) XP_011510032.1:p.Ile23068Val
XM_011511731.1:c.69061A>G (TTN) XP_011510033.1:p.Ile23021Val
XM_017004819.1:c.95104A>G (TTN) XP_016860308.1:p.Ile31702Val
XM_017004820.1:c.90502A>G (TTN) XP_016860309.1:p.Ile30168Val
XM_017004821.1:c.90499A>G (TTN) XP_016860310.1:p.Ile30167Val
XM_017004822.1:c.87541A>G (TTN) XP_016860311.1:p.Ile29181Val
XM_017004823.1:c.69157A>G (TTN) XP_016860312.1:p.Ile23053Val
XM_024453094.1:c.90652A>G (TTN) XP_024308862.1:p.Ile30218Val
XM_024453095.1:c.90649A>G (TTN) XP_024308863.1:p.Ile30217Val
XM_024453096.1:c.90082A>G (TTN) XP_024308864.1:p.Ile30028Val
XM_024453097.1:c.87424A>G (TTN) XP_024308865.1:p.Ile29142Val
XM_024453098.1:c.87343A>G (TTN) XP_024308866.1:p.Ile29115Val
XM_024453099.1:c.69106A>G (TTN) XP_024308867.1:p.Ile23036Val
XM_024453100.1:c.58960A>G (TTN) XP_024308868.1:p.Ile19654Val