Canonical Allele Identifier: CA349601342

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567393A>T , CM000664.2:g.178567393A>T GRCh38
NC_000002.11:g.179432120A>T , CM000664.1:g.179432120A>T GRCh37
NC_000002.10:g.179140366A>T NCBI36
NG_011618.3:g.268410T>A , LRG_391:g.268410T>A
NG_051363.1:g.49567A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71035T>A (TTN) ENSP00000343764.6:p.Phe23679Ile
ENST00000342175.11:c.52120T>A (TTN) ENSP00000340554.6:p.Phe17374Ile
ENST00000359218.10:c.51919T>A (TTN) ENSP00000352154.5:p.Phe17307Ile
ENST00000342175.10:c.52120T>A (TTN) ENSP00000340554.6:p.Phe17374Ile
ENST00000342992.10:c.71035T>A (TTN) ENSP00000343764.6:p.Phe23679Ile
ENST00000359218.9:c.51919T>A (TTN) ENSP00000352154.5:p.Phe17307Ile
ENST00000460472.6:c.51544T>A (TTN) ENSP00000434586.1:p.Phe17182Ile
ENST00000589042.5:c.78739T>A (TTN) MANE Select ENSP00000467141.1:p.Phe26247Ile
ENST00000591111.5:c.73816T>A (TTN) ENSP00000465570.1:p.Phe24606Ile
ENST00000615779.4:c.73816T>A (TTN) ENSP00000483597.1:p.Phe24606Ile
NM_001256850.1:c.73816T>A (TTN) NP_001243779.1:p.Phe24606Ile
NM_001267550.2:c.78739T>A (TTN) MANE Select NP_001254479.2:p.Phe26247Ile
NM_003319.4:c.51544T>A (TTN) NP_003310.4:p.Phe17182Ile
NM_133378.4:c.71035T>A (TTN) NP_596869.4:p.Phe23679Ile
NM_133432.3:c.51919T>A (TTN) NP_597676.3:p.Phe17307Ile
NM_133437.4:c.52120T>A (TTN) NP_597681.4:p.Phe17374Ile
NR_038271.1:n.447-3907A>T (TTN-AS1)
NR_038272.1:n.2044-15179A>T (TTN-AS1)
XM_011511729.1:c.77836T>A (TTN) XP_011510031.1:p.Phe25946Ile
XM_011511730.1:c.51730T>A (TTN) XP_011510032.1:p.Phe17244Ile
XM_011511731.1:c.51589T>A (TTN) XP_011510033.1:p.Phe17197Ile
XM_017004819.1:c.77632T>A (TTN) XP_016860308.1:p.Phe25878Ile
XM_017004820.1:c.73030T>A (TTN) XP_016860309.1:p.Phe24344Ile
XM_017004821.1:c.73027T>A (TTN) XP_016860310.1:p.Phe24343Ile
XM_017004822.1:c.70069T>A (TTN) XP_016860311.1:p.Phe23357Ile
XM_017004823.1:c.51685T>A (TTN) XP_016860312.1:p.Phe17229Ile
XM_024453094.1:c.73180T>A (TTN) XP_024308862.1:p.Phe24394Ile
XM_024453095.1:c.73177T>A (TTN) XP_024308863.1:p.Phe24393Ile
XM_024453096.1:c.72610T>A (TTN) XP_024308864.1:p.Phe24204Ile
XM_024453097.1:c.69952T>A (TTN) XP_024308865.1:p.Phe23318Ile
XM_024453098.1:c.69871T>A (TTN) XP_024308866.1:p.Phe23291Ile
XM_024453099.1:c.51634T>A (TTN) XP_024308867.1:p.Phe17212Ile
XM_024453100.1:c.41488T>A (TTN) XP_024308868.1:p.Phe13830Ile