Canonical Allele Identifier: CA349411752

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532186G>T , CM000664.2:g.178532186G>T GRCh38
NC_000002.11:g.179396913G>T , CM000664.1:g.179396913G>T GRCh37
NC_000002.10:g.179105159G>T NCBI36
NG_011618.3:g.303617C>A , LRG_391:g.303617C>A
NG_051363.1:g.14360G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96725C>A (TTN) ENSP00000343764.6:p.Thr32242Lys
ENST00000342175.11:c.77810C>A (TTN) ENSP00000340554.6:p.Thr25937Lys
ENST00000359218.10:c.77609C>A (TTN) ENSP00000352154.5:p.Thr25870Lys
ENST00000342175.10:c.77810C>A (TTN) ENSP00000340554.6:p.Thr25937Lys
ENST00000342992.10:c.96725C>A (TTN) ENSP00000343764.6:p.Thr32242Lys
ENST00000359218.9:c.77609C>A (TTN) ENSP00000352154.5:p.Thr25870Lys
ENST00000460472.6:c.77234C>A (TTN) ENSP00000434586.1:p.Thr25745Lys
ENST00000589042.5:c.104429C>A (TTN) MANE Select ENSP00000467141.1:p.Thr34810Lys
ENST00000591111.5:c.99506C>A (TTN) ENSP00000465570.1:p.Thr33169Lys
ENST00000615779.4:c.99506C>A (TTN) ENSP00000483597.1:p.Thr33169Lys
NM_001256850.1:c.99506C>A (TTN) NP_001243779.1:p.Thr33169Lys
NM_001267550.2:c.104429C>A (TTN) MANE Select NP_001254479.2:p.Thr34810Lys
NM_003319.4:c.77234C>A (TTN) NP_003310.4:p.Thr25745Lys
NM_133378.4:c.96725C>A (TTN) NP_596869.4:p.Thr32242Lys
NM_133432.3:c.77609C>A (TTN) NP_597676.3:p.Thr25870Lys
NM_133437.4:c.77810C>A (TTN) NP_597681.4:p.Thr25937Lys
NR_038271.1:n.446+8550G>T (TTN-AS1)
NR_038272.1:n.220-3546G>T (TTN-AS1)
XM_011511729.1:c.103526C>A (TTN) XP_011510031.1:p.Thr34509Lys
XM_011511730.1:c.77420C>A (TTN) XP_011510032.1:p.Thr25807Lys
XM_011511731.1:c.77279C>A (TTN) XP_011510033.1:p.Thr25760Lys
XM_017004819.1:c.103322C>A (TTN) XP_016860308.1:p.Thr34441Lys
XM_017004820.1:c.98720C>A (TTN) XP_016860309.1:p.Thr32907Lys
XM_017004821.1:c.98717C>A (TTN) XP_016860310.1:p.Thr32906Lys
XM_017004822.1:c.95759C>A (TTN) XP_016860311.1:p.Thr31920Lys
XM_017004823.1:c.77375C>A (TTN) XP_016860312.1:p.Thr25792Lys
XM_024453094.1:c.98870C>A (TTN) XP_024308862.1:p.Thr32957Lys
XM_024453095.1:c.98867C>A (TTN) XP_024308863.1:p.Thr32956Lys
XM_024453096.1:c.98300C>A (TTN) XP_024308864.1:p.Thr32767Lys
XM_024453097.1:c.95642C>A (TTN) XP_024308865.1:p.Thr31881Lys
XM_024453098.1:c.95561C>A (TTN) XP_024308866.1:p.Thr31854Lys
XM_024453099.1:c.77324C>A (TTN) XP_024308867.1:p.Thr25775Lys
XM_024453100.1:c.67178C>A (TTN) XP_024308868.1:p.Thr22393Lys