Canonical Allele Identifier: CA349406611

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530408T>C , CM000664.2:g.178530408T>C GRCh38
NC_000002.11:g.179395135T>C , CM000664.1:g.179395135T>C GRCh37
NC_000002.10:g.179103381T>C NCBI36
NG_011618.3:g.305395A>G , LRG_391:g.305395A>G
NG_051363.1:g.12582T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98503A>G (TTN) ENSP00000343764.6:p.Thr32835Ala
ENST00000342175.11:c.79588A>G (TTN) ENSP00000340554.6:p.Thr26530Ala
ENST00000359218.10:c.79387A>G (TTN) ENSP00000352154.5:p.Thr26463Ala
ENST00000342175.10:c.79588A>G (TTN) ENSP00000340554.6:p.Thr26530Ala
ENST00000342992.10:c.98503A>G (TTN) ENSP00000343764.6:p.Thr32835Ala
ENST00000359218.9:c.79387A>G (TTN) ENSP00000352154.5:p.Thr26463Ala
ENST00000460472.6:c.79012A>G (TTN) ENSP00000434586.1:p.Thr26338Ala
ENST00000589042.5:c.106207A>G (TTN) MANE Select ENSP00000467141.1:p.Thr35403Ala
ENST00000591111.5:c.101284A>G (TTN) ENSP00000465570.1:p.Thr33762Ala
ENST00000615779.4:c.101284A>G (TTN) ENSP00000483597.1:p.Thr33762Ala
NM_001256850.1:c.101284A>G (TTN) NP_001243779.1:p.Thr33762Ala
NM_001267550.2:c.106207A>G (TTN) MANE Select NP_001254479.2:p.Thr35403Ala
NM_003319.4:c.79012A>G (TTN) NP_003310.4:p.Thr26338Ala
NM_133378.4:c.98503A>G (TTN) NP_596869.4:p.Thr32835Ala
NM_133432.3:c.79387A>G (TTN) NP_597676.3:p.Thr26463Ala
NM_133437.4:c.79588A>G (TTN) NP_597681.4:p.Thr26530Ala
NR_038271.1:n.446+6772T>C (TTN-AS1)
NR_038272.1:n.220-5324T>C (TTN-AS1)
XM_011511729.1:c.105304A>G (TTN) XP_011510031.1:p.Thr35102Ala
XM_011511730.1:c.79198A>G (TTN) XP_011510032.1:p.Thr26400Ala
XM_011511731.1:c.79057A>G (TTN) XP_011510033.1:p.Thr26353Ala
XM_017004819.1:c.105100A>G (TTN) XP_016860308.1:p.Thr35034Ala
XM_017004820.1:c.100498A>G (TTN) XP_016860309.1:p.Thr33500Ala
XM_017004821.1:c.100495A>G (TTN) XP_016860310.1:p.Thr33499Ala
XM_017004822.1:c.97537A>G (TTN) XP_016860311.1:p.Thr32513Ala
XM_017004823.1:c.79153A>G (TTN) XP_016860312.1:p.Thr26385Ala
XM_024453094.1:c.100648A>G (TTN) XP_024308862.1:p.Thr33550Ala
XM_024453095.1:c.100645A>G (TTN) XP_024308863.1:p.Thr33549Ala
XM_024453096.1:c.100078A>G (TTN) XP_024308864.1:p.Thr33360Ala
XM_024453097.1:c.97420A>G (TTN) XP_024308865.1:p.Thr32474Ala
XM_024453098.1:c.97339A>G (TTN) XP_024308866.1:p.Thr32447Ala
XM_024453099.1:c.79102A>G (TTN) XP_024308867.1:p.Thr26368Ala
XM_024453100.1:c.68956A>G (TTN) XP_024308868.1:p.Thr22986Ala