Canonical Allele Identifier: CA349407157

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530572T>A , CM000664.2:g.178530572T>A GRCh38
NC_000002.11:g.179395299T>A , CM000664.1:g.179395299T>A GRCh37
NC_000002.10:g.179103545T>A NCBI36
NG_011618.3:g.305231A>T , LRG_391:g.305231A>T
NG_051363.1:g.12746T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98339A>T (TTN) ENSP00000343764.6:p.Asn32780Ile
ENST00000342175.11:c.79424A>T (TTN) ENSP00000340554.6:p.Asn26475Ile
ENST00000359218.10:c.79223A>T (TTN) ENSP00000352154.5:p.Asn26408Ile
ENST00000342175.10:c.79424A>T (TTN) ENSP00000340554.6:p.Asn26475Ile
ENST00000342992.10:c.98339A>T (TTN) ENSP00000343764.6:p.Asn32780Ile
ENST00000359218.9:c.79223A>T (TTN) ENSP00000352154.5:p.Asn26408Ile
ENST00000460472.6:c.78848A>T (TTN) ENSP00000434586.1:p.Asn26283Ile
ENST00000589042.5:c.106043A>T (TTN) MANE Select ENSP00000467141.1:p.Asn35348Ile
ENST00000591111.5:c.101120A>T (TTN) ENSP00000465570.1:p.Asn33707Ile
ENST00000615779.4:c.101120A>T (TTN) ENSP00000483597.1:p.Asn33707Ile
NM_001256850.1:c.101120A>T (TTN) NP_001243779.1:p.Asn33707Ile
NM_001267550.2:c.106043A>T (TTN) MANE Select NP_001254479.2:p.Asn35348Ile
NM_003319.4:c.78848A>T (TTN) NP_003310.4:p.Asn26283Ile
NM_133378.4:c.98339A>T (TTN) NP_596869.4:p.Asn32780Ile
NM_133432.3:c.79223A>T (TTN) NP_597676.3:p.Asn26408Ile
NM_133437.4:c.79424A>T (TTN) NP_597681.4:p.Asn26475Ile
NR_038271.1:n.446+6936T>A (TTN-AS1)
NR_038272.1:n.220-5160T>A (TTN-AS1)
XM_011511729.1:c.105140A>T (TTN) XP_011510031.1:p.Asn35047Ile
XM_011511730.1:c.79034A>T (TTN) XP_011510032.1:p.Asn26345Ile
XM_011511731.1:c.78893A>T (TTN) XP_011510033.1:p.Asn26298Ile
XM_017004819.1:c.104936A>T (TTN) XP_016860308.1:p.Asn34979Ile
XM_017004820.1:c.100334A>T (TTN) XP_016860309.1:p.Asn33445Ile
XM_017004821.1:c.100331A>T (TTN) XP_016860310.1:p.Asn33444Ile
XM_017004822.1:c.97373A>T (TTN) XP_016860311.1:p.Asn32458Ile
XM_017004823.1:c.78989A>T (TTN) XP_016860312.1:p.Asn26330Ile
XM_024453094.1:c.100484A>T (TTN) XP_024308862.1:p.Asn33495Ile
XM_024453095.1:c.100481A>T (TTN) XP_024308863.1:p.Asn33494Ile
XM_024453096.1:c.99914A>T (TTN) XP_024308864.1:p.Asn33305Ile
XM_024453097.1:c.97256A>T (TTN) XP_024308865.1:p.Asn32419Ile
XM_024453098.1:c.97175A>T (TTN) XP_024308866.1:p.Asn32392Ile
XM_024453099.1:c.78938A>T (TTN) XP_024308867.1:p.Asn26313Ile
XM_024453100.1:c.68792A>T (TTN) XP_024308868.1:p.Asn22931Ile