Canonical Allele Identifier: CA349407318

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530642T>C , CM000664.2:g.178530642T>C GRCh38
NC_000002.11:g.179395369T>C , CM000664.1:g.179395369T>C GRCh37
NC_000002.10:g.179103615T>C NCBI36
NG_011618.3:g.305161A>G , LRG_391:g.305161A>G
NG_051363.1:g.12816T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98269A>G (TTN) ENSP00000343764.6:p.Lys32757Glu
ENST00000342175.11:c.79354A>G (TTN) ENSP00000340554.6:p.Lys26452Glu
ENST00000359218.10:c.79153A>G (TTN) ENSP00000352154.5:p.Lys26385Glu
ENST00000342175.10:c.79354A>G (TTN) ENSP00000340554.6:p.Lys26452Glu
ENST00000342992.10:c.98269A>G (TTN) ENSP00000343764.6:p.Lys32757Glu
ENST00000359218.9:c.79153A>G (TTN) ENSP00000352154.5:p.Lys26385Glu
ENST00000460472.6:c.78778A>G (TTN) ENSP00000434586.1:p.Lys26260Glu
ENST00000589042.5:c.105973A>G (TTN) MANE Select ENSP00000467141.1:p.Lys35325Glu
ENST00000591111.5:c.101050A>G (TTN) ENSP00000465570.1:p.Lys33684Glu
ENST00000615779.4:c.101050A>G (TTN) ENSP00000483597.1:p.Lys33684Glu
NM_001256850.1:c.101050A>G (TTN) NP_001243779.1:p.Lys33684Glu
NM_001267550.2:c.105973A>G (TTN) MANE Select NP_001254479.2:p.Lys35325Glu
NM_003319.4:c.78778A>G (TTN) NP_003310.4:p.Lys26260Glu
NM_133378.4:c.98269A>G (TTN) NP_596869.4:p.Lys32757Glu
NM_133432.3:c.79153A>G (TTN) NP_597676.3:p.Lys26385Glu
NM_133437.4:c.79354A>G (TTN) NP_597681.4:p.Lys26452Glu
NR_038271.1:n.446+7006T>C (TTN-AS1)
NR_038272.1:n.220-5090T>C (TTN-AS1)
XM_011511729.1:c.105070A>G (TTN) XP_011510031.1:p.Lys35024Glu
XM_011511730.1:c.78964A>G (TTN) XP_011510032.1:p.Lys26322Glu
XM_011511731.1:c.78823A>G (TTN) XP_011510033.1:p.Lys26275Glu
XM_017004819.1:c.104866A>G (TTN) XP_016860308.1:p.Lys34956Glu
XM_017004820.1:c.100264A>G (TTN) XP_016860309.1:p.Lys33422Glu
XM_017004821.1:c.100261A>G (TTN) XP_016860310.1:p.Lys33421Glu
XM_017004822.1:c.97303A>G (TTN) XP_016860311.1:p.Lys32435Glu
XM_017004823.1:c.78919A>G (TTN) XP_016860312.1:p.Lys26307Glu
XM_024453094.1:c.100414A>G (TTN) XP_024308862.1:p.Lys33472Glu
XM_024453095.1:c.100411A>G (TTN) XP_024308863.1:p.Lys33471Glu
XM_024453096.1:c.99844A>G (TTN) XP_024308864.1:p.Lys33282Glu
XM_024453097.1:c.97186A>G (TTN) XP_024308865.1:p.Lys32396Glu
XM_024453098.1:c.97105A>G (TTN) XP_024308866.1:p.Lys32369Glu
XM_024453099.1:c.78868A>G (TTN) XP_024308867.1:p.Lys26290Glu
XM_024453100.1:c.68722A>G (TTN) XP_024308868.1:p.Lys22908Glu