Canonical Allele Identifier: CA349407322

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530644T>G , CM000664.2:g.178530644T>G GRCh38
NC_000002.11:g.179395371T>G , CM000664.1:g.179395371T>G GRCh37
NC_000002.10:g.179103617T>G NCBI36
NG_011618.3:g.305159A>C , LRG_391:g.305159A>C
NG_051363.1:g.12818T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98267A>C (TTN) ENSP00000343764.6:p.Lys32756Thr
ENST00000342175.11:c.79352A>C (TTN) ENSP00000340554.6:p.Lys26451Thr
ENST00000359218.10:c.79151A>C (TTN) ENSP00000352154.5:p.Lys26384Thr
ENST00000342175.10:c.79352A>C (TTN) ENSP00000340554.6:p.Lys26451Thr
ENST00000342992.10:c.98267A>C (TTN) ENSP00000343764.6:p.Lys32756Thr
ENST00000359218.9:c.79151A>C (TTN) ENSP00000352154.5:p.Lys26384Thr
ENST00000460472.6:c.78776A>C (TTN) ENSP00000434586.1:p.Lys26259Thr
ENST00000589042.5:c.105971A>C (TTN) MANE Select ENSP00000467141.1:p.Lys35324Thr
ENST00000591111.5:c.101048A>C (TTN) ENSP00000465570.1:p.Lys33683Thr
ENST00000615779.4:c.101048A>C (TTN) ENSP00000483597.1:p.Lys33683Thr
NM_001256850.1:c.101048A>C (TTN) NP_001243779.1:p.Lys33683Thr
NM_001267550.2:c.105971A>C (TTN) MANE Select NP_001254479.2:p.Lys35324Thr
NM_003319.4:c.78776A>C (TTN) NP_003310.4:p.Lys26259Thr
NM_133378.4:c.98267A>C (TTN) NP_596869.4:p.Lys32756Thr
NM_133432.3:c.79151A>C (TTN) NP_597676.3:p.Lys26384Thr
NM_133437.4:c.79352A>C (TTN) NP_597681.4:p.Lys26451Thr
NR_038271.1:n.446+7008T>G (TTN-AS1)
NR_038272.1:n.220-5088T>G (TTN-AS1)
XM_011511729.1:c.105068A>C (TTN) XP_011510031.1:p.Lys35023Thr
XM_011511730.1:c.78962A>C (TTN) XP_011510032.1:p.Lys26321Thr
XM_011511731.1:c.78821A>C (TTN) XP_011510033.1:p.Lys26274Thr
XM_017004819.1:c.104864A>C (TTN) XP_016860308.1:p.Lys34955Thr
XM_017004820.1:c.100262A>C (TTN) XP_016860309.1:p.Lys33421Thr
XM_017004821.1:c.100259A>C (TTN) XP_016860310.1:p.Lys33420Thr
XM_017004822.1:c.97301A>C (TTN) XP_016860311.1:p.Lys32434Thr
XM_017004823.1:c.78917A>C (TTN) XP_016860312.1:p.Lys26306Thr
XM_024453094.1:c.100412A>C (TTN) XP_024308862.1:p.Lys33471Thr
XM_024453095.1:c.100409A>C (TTN) XP_024308863.1:p.Lys33470Thr
XM_024453096.1:c.99842A>C (TTN) XP_024308864.1:p.Lys33281Thr
XM_024453097.1:c.97184A>C (TTN) XP_024308865.1:p.Lys32395Thr
XM_024453098.1:c.97103A>C (TTN) XP_024308866.1:p.Lys32368Thr
XM_024453099.1:c.78866A>C (TTN) XP_024308867.1:p.Lys26289Thr
XM_024453100.1:c.68720A>C (TTN) XP_024308868.1:p.Lys22907Thr