Canonical Allele Identifier: CA349406659

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530419G>A , CM000664.2:g.178530419G>A GRCh38
NC_000002.11:g.179395146G>A , CM000664.1:g.179395146G>A GRCh37
NC_000002.10:g.179103392G>A NCBI36
NG_011618.3:g.305384C>T , LRG_391:g.305384C>T
NG_051363.1:g.12593G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98492C>T (TTN) ENSP00000343764.6:p.Thr32831Ile
ENST00000342175.11:c.79577C>T (TTN) ENSP00000340554.6:p.Thr26526Ile
ENST00000359218.10:c.79376C>T (TTN) ENSP00000352154.5:p.Thr26459Ile
ENST00000342175.10:c.79577C>T (TTN) ENSP00000340554.6:p.Thr26526Ile
ENST00000342992.10:c.98492C>T (TTN) ENSP00000343764.6:p.Thr32831Ile
ENST00000359218.9:c.79376C>T (TTN) ENSP00000352154.5:p.Thr26459Ile
ENST00000460472.6:c.79001C>T (TTN) ENSP00000434586.1:p.Thr26334Ile
ENST00000589042.5:c.106196C>T (TTN) MANE Select ENSP00000467141.1:p.Thr35399Ile
ENST00000591111.5:c.101273C>T (TTN) ENSP00000465570.1:p.Thr33758Ile
ENST00000615779.4:c.101273C>T (TTN) ENSP00000483597.1:p.Thr33758Ile
NM_001256850.1:c.101273C>T (TTN) NP_001243779.1:p.Thr33758Ile
NM_001267550.2:c.106196C>T (TTN) MANE Select NP_001254479.2:p.Thr35399Ile
NM_003319.4:c.79001C>T (TTN) NP_003310.4:p.Thr26334Ile
NM_133378.4:c.98492C>T (TTN) NP_596869.4:p.Thr32831Ile
NM_133432.3:c.79376C>T (TTN) NP_597676.3:p.Thr26459Ile
NM_133437.4:c.79577C>T (TTN) NP_597681.4:p.Thr26526Ile
NR_038271.1:n.446+6783G>A (TTN-AS1)
NR_038272.1:n.220-5313G>A (TTN-AS1)
XM_011511729.1:c.105293C>T (TTN) XP_011510031.1:p.Thr35098Ile
XM_011511730.1:c.79187C>T (TTN) XP_011510032.1:p.Thr26396Ile
XM_011511731.1:c.79046C>T (TTN) XP_011510033.1:p.Thr26349Ile
XM_017004819.1:c.105089C>T (TTN) XP_016860308.1:p.Thr35030Ile
XM_017004820.1:c.100487C>T (TTN) XP_016860309.1:p.Thr33496Ile
XM_017004821.1:c.100484C>T (TTN) XP_016860310.1:p.Thr33495Ile
XM_017004822.1:c.97526C>T (TTN) XP_016860311.1:p.Thr32509Ile
XM_017004823.1:c.79142C>T (TTN) XP_016860312.1:p.Thr26381Ile
XM_024453094.1:c.100637C>T (TTN) XP_024308862.1:p.Thr33546Ile
XM_024453095.1:c.100634C>T (TTN) XP_024308863.1:p.Thr33545Ile
XM_024453096.1:c.100067C>T (TTN) XP_024308864.1:p.Thr33356Ile
XM_024453097.1:c.97409C>T (TTN) XP_024308865.1:p.Thr32470Ile
XM_024453098.1:c.97328C>T (TTN) XP_024308866.1:p.Thr32443Ile
XM_024453099.1:c.79091C>T (TTN) XP_024308867.1:p.Thr26364Ile
XM_024453100.1:c.68945C>T (TTN) XP_024308868.1:p.Thr22982Ile