Canonical Allele Identifier: CA349406078

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530290T>G , CM000664.2:g.178530290T>G GRCh38
NC_000002.11:g.179395017T>G , CM000664.1:g.179395017T>G GRCh37
NC_000002.10:g.179103263T>G NCBI36
NG_011618.3:g.305513A>C , LRG_391:g.305513A>C
NG_051363.1:g.12464T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98621A>C (TTN) ENSP00000343764.6:p.Lys32874Thr
ENST00000342175.11:c.79706A>C (TTN) ENSP00000340554.6:p.Lys26569Thr
ENST00000359218.10:c.79505A>C (TTN) ENSP00000352154.5:p.Lys26502Thr
ENST00000342175.10:c.79706A>C (TTN) ENSP00000340554.6:p.Lys26569Thr
ENST00000342992.10:c.98621A>C (TTN) ENSP00000343764.6:p.Lys32874Thr
ENST00000359218.9:c.79505A>C (TTN) ENSP00000352154.5:p.Lys26502Thr
ENST00000460472.6:c.79130A>C (TTN) ENSP00000434586.1:p.Lys26377Thr
ENST00000589042.5:c.106325A>C (TTN) MANE Select ENSP00000467141.1:p.Lys35442Thr
ENST00000591111.5:c.101402A>C (TTN) ENSP00000465570.1:p.Lys33801Thr
ENST00000615779.4:c.101402A>C (TTN) ENSP00000483597.1:p.Lys33801Thr
NM_001256850.1:c.101402A>C (TTN) NP_001243779.1:p.Lys33801Thr
NM_001267550.2:c.106325A>C (TTN) MANE Select NP_001254479.2:p.Lys35442Thr
NM_003319.4:c.79130A>C (TTN) NP_003310.4:p.Lys26377Thr
NM_133378.4:c.98621A>C (TTN) NP_596869.4:p.Lys32874Thr
NM_133432.3:c.79505A>C (TTN) NP_597676.3:p.Lys26502Thr
NM_133437.4:c.79706A>C (TTN) NP_597681.4:p.Lys26569Thr
NR_038271.1:n.446+6654T>G (TTN-AS1)
NR_038272.1:n.220-5442T>G (TTN-AS1)
XM_011511729.1:c.105422A>C (TTN) XP_011510031.1:p.Lys35141Thr
XM_011511730.1:c.79316A>C (TTN) XP_011510032.1:p.Lys26439Thr
XM_011511731.1:c.79175A>C (TTN) XP_011510033.1:p.Lys26392Thr
XM_017004819.1:c.105218A>C (TTN) XP_016860308.1:p.Lys35073Thr
XM_017004820.1:c.100616A>C (TTN) XP_016860309.1:p.Lys33539Thr
XM_017004821.1:c.100613A>C (TTN) XP_016860310.1:p.Lys33538Thr
XM_017004822.1:c.97655A>C (TTN) XP_016860311.1:p.Lys32552Thr
XM_017004823.1:c.79271A>C (TTN) XP_016860312.1:p.Lys26424Thr
XM_024453094.1:c.100766A>C (TTN) XP_024308862.1:p.Lys33589Thr
XM_024453095.1:c.100763A>C (TTN) XP_024308863.1:p.Lys33588Thr
XM_024453096.1:c.100196A>C (TTN) XP_024308864.1:p.Lys33399Thr
XM_024453097.1:c.97538A>C (TTN) XP_024308865.1:p.Lys32513Thr
XM_024453098.1:c.97457A>C (TTN) XP_024308866.1:p.Lys32486Thr
XM_024453099.1:c.79220A>C (TTN) XP_024308867.1:p.Lys26407Thr
XM_024453100.1:c.69074A>C (TTN) XP_024308868.1:p.Lys23025Thr