Canonical Allele Identifier: CA349456180

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544329T>A , CM000664.2:g.178544329T>A GRCh38
NC_000002.11:g.179409056T>A , CM000664.1:g.179409056T>A GRCh37
NC_000002.10:g.179117302T>A NCBI36
NG_011618.3:g.291474A>T , LRG_391:g.291474A>T
NG_051363.1:g.26503T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88196A>T (TTN) ENSP00000343764.6:p.Asn29399Ile
ENST00000342175.11:c.69281A>T (TTN) ENSP00000340554.6:p.Asn23094Ile
ENST00000359218.10:c.69080A>T (TTN) ENSP00000352154.5:p.Asn23027Ile
ENST00000342175.10:c.69281A>T (TTN) ENSP00000340554.6:p.Asn23094Ile
ENST00000342992.10:c.88196A>T (TTN) ENSP00000343764.6:p.Asn29399Ile
ENST00000359218.9:c.69080A>T (TTN) ENSP00000352154.5:p.Asn23027Ile
ENST00000460472.6:c.68705A>T (TTN) ENSP00000434586.1:p.Asn22902Ile
ENST00000589042.5:c.95900A>T (TTN) MANE Select ENSP00000467141.1:p.Asn31967Ile
ENST00000591111.5:c.90977A>T (TTN) ENSP00000465570.1:p.Asn30326Ile
ENST00000615779.4:c.90977A>T (TTN) ENSP00000483597.1:p.Asn30326Ile
NM_001256850.1:c.90977A>T (TTN) NP_001243779.1:p.Asn30326Ile
NM_001267550.2:c.95900A>T (TTN) MANE Select NP_001254479.2:p.Asn31967Ile
NM_003319.4:c.68705A>T (TTN) NP_003310.4:p.Asn22902Ile
NM_133378.4:c.88196A>T (TTN) NP_596869.4:p.Asn29399Ile
NM_133432.3:c.69080A>T (TTN) NP_597676.3:p.Asn23027Ile
NM_133437.4:c.69281A>T (TTN) NP_597681.4:p.Asn23094Ile
NR_038271.1:n.446+20693T>A (TTN-AS1)
NR_038272.1:n.2043+1968T>A (TTN-AS1)
XM_011511729.1:c.94997A>T (TTN) XP_011510031.1:p.Asn31666Ile
XM_011511730.1:c.68891A>T (TTN) XP_011510032.1:p.Asn22964Ile
XM_011511731.1:c.68750A>T (TTN) XP_011510033.1:p.Asn22917Ile
XM_017004819.1:c.94793A>T (TTN) XP_016860308.1:p.Asn31598Ile
XM_017004820.1:c.90191A>T (TTN) XP_016860309.1:p.Asn30064Ile
XM_017004821.1:c.90188A>T (TTN) XP_016860310.1:p.Asn30063Ile
XM_017004822.1:c.87230A>T (TTN) XP_016860311.1:p.Asn29077Ile
XM_017004823.1:c.68846A>T (TTN) XP_016860312.1:p.Asn22949Ile
XM_024453094.1:c.90341A>T (TTN) XP_024308862.1:p.Asn30114Ile
XM_024453095.1:c.90338A>T (TTN) XP_024308863.1:p.Asn30113Ile
XM_024453096.1:c.89771A>T (TTN) XP_024308864.1:p.Asn29924Ile
XM_024453097.1:c.87113A>T (TTN) XP_024308865.1:p.Asn29038Ile
XM_024453098.1:c.87032A>T (TTN) XP_024308866.1:p.Asn29011Ile
XM_024453099.1:c.68795A>T (TTN) XP_024308867.1:p.Asn22932Ile
XM_024453100.1:c.58649A>T (TTN) XP_024308868.1:p.Asn19550Ile