Canonical Allele Identifier: CA349411755

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532187T>C , CM000664.2:g.178532187T>C GRCh38
NC_000002.11:g.179396914T>C , CM000664.1:g.179396914T>C GRCh37
NC_000002.10:g.179105160T>C NCBI36
NG_011618.3:g.303616A>G , LRG_391:g.303616A>G
NG_051363.1:g.14361T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96724A>G (TTN) ENSP00000343764.6:p.Thr32242Ala
ENST00000342175.11:c.77809A>G (TTN) ENSP00000340554.6:p.Thr25937Ala
ENST00000359218.10:c.77608A>G (TTN) ENSP00000352154.5:p.Thr25870Ala
ENST00000342175.10:c.77809A>G (TTN) ENSP00000340554.6:p.Thr25937Ala
ENST00000342992.10:c.96724A>G (TTN) ENSP00000343764.6:p.Thr32242Ala
ENST00000359218.9:c.77608A>G (TTN) ENSP00000352154.5:p.Thr25870Ala
ENST00000460472.6:c.77233A>G (TTN) ENSP00000434586.1:p.Thr25745Ala
ENST00000589042.5:c.104428A>G (TTN) MANE Select ENSP00000467141.1:p.Thr34810Ala
ENST00000591111.5:c.99505A>G (TTN) ENSP00000465570.1:p.Thr33169Ala
ENST00000615779.4:c.99505A>G (TTN) ENSP00000483597.1:p.Thr33169Ala
NM_001256850.1:c.99505A>G (TTN) NP_001243779.1:p.Thr33169Ala
NM_001267550.2:c.104428A>G (TTN) MANE Select NP_001254479.2:p.Thr34810Ala
NM_003319.4:c.77233A>G (TTN) NP_003310.4:p.Thr25745Ala
NM_133378.4:c.96724A>G (TTN) NP_596869.4:p.Thr32242Ala
NM_133432.3:c.77608A>G (TTN) NP_597676.3:p.Thr25870Ala
NM_133437.4:c.77809A>G (TTN) NP_597681.4:p.Thr25937Ala
NR_038271.1:n.446+8551T>C (TTN-AS1)
NR_038272.1:n.220-3545T>C (TTN-AS1)
XM_011511729.1:c.103525A>G (TTN) XP_011510031.1:p.Thr34509Ala
XM_011511730.1:c.77419A>G (TTN) XP_011510032.1:p.Thr25807Ala
XM_011511731.1:c.77278A>G (TTN) XP_011510033.1:p.Thr25760Ala
XM_017004819.1:c.103321A>G (TTN) XP_016860308.1:p.Thr34441Ala
XM_017004820.1:c.98719A>G (TTN) XP_016860309.1:p.Thr32907Ala
XM_017004821.1:c.98716A>G (TTN) XP_016860310.1:p.Thr32906Ala
XM_017004822.1:c.95758A>G (TTN) XP_016860311.1:p.Thr31920Ala
XM_017004823.1:c.77374A>G (TTN) XP_016860312.1:p.Thr25792Ala
XM_024453094.1:c.98869A>G (TTN) XP_024308862.1:p.Thr32957Ala
XM_024453095.1:c.98866A>G (TTN) XP_024308863.1:p.Thr32956Ala
XM_024453096.1:c.98299A>G (TTN) XP_024308864.1:p.Thr32767Ala
XM_024453097.1:c.95641A>G (TTN) XP_024308865.1:p.Thr31881Ala
XM_024453098.1:c.95560A>G (TTN) XP_024308866.1:p.Thr31854Ala
XM_024453099.1:c.77323A>G (TTN) XP_024308867.1:p.Thr25775Ala
XM_024453100.1:c.67177A>G (TTN) XP_024308868.1:p.Thr22393Ala