Canonical Allele Identifier: CA349405239

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530047T>G , CM000664.2:g.178530047T>G GRCh38
NC_000002.11:g.179394774T>G , CM000664.1:g.179394774T>G GRCh37
NC_000002.10:g.179103020T>G NCBI36
NG_011618.3:g.305756A>C , LRG_391:g.305756A>C
NG_051363.1:g.12221T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98740A>C (TTN) ENSP00000343764.6:p.Thr32914Pro
ENST00000342175.11:c.79825A>C (TTN) ENSP00000340554.6:p.Thr26609Pro
ENST00000359218.10:c.79624A>C (TTN) ENSP00000352154.5:p.Thr26542Pro
ENST00000342175.10:c.79825A>C (TTN) ENSP00000340554.6:p.Thr26609Pro
ENST00000342992.10:c.98740A>C (TTN) ENSP00000343764.6:p.Thr32914Pro
ENST00000359218.9:c.79624A>C (TTN) ENSP00000352154.5:p.Thr26542Pro
ENST00000460472.6:c.79249A>C (TTN) ENSP00000434586.1:p.Thr26417Pro
ENST00000589042.5:c.106444A>C (TTN) MANE Select ENSP00000467141.1:p.Thr35482Pro
ENST00000591111.5:c.101521A>C (TTN) ENSP00000465570.1:p.Thr33841Pro
ENST00000615779.4:c.101521A>C (TTN) ENSP00000483597.1:p.Thr33841Pro
NM_001256850.1:c.101521A>C (TTN) NP_001243779.1:p.Thr33841Pro
NM_001267550.2:c.106444A>C (TTN) MANE Select NP_001254479.2:p.Thr35482Pro
NM_003319.4:c.79249A>C (TTN) NP_003310.4:p.Thr26417Pro
NM_133378.4:c.98740A>C (TTN) NP_596869.4:p.Thr32914Pro
NM_133432.3:c.79624A>C (TTN) NP_597676.3:p.Thr26542Pro
NM_133437.4:c.79825A>C (TTN) NP_597681.4:p.Thr26609Pro
NR_038271.1:n.446+6411T>G (TTN-AS1)
NR_038272.1:n.220-5685T>G (TTN-AS1)
XM_011511729.1:c.105541A>C (TTN) XP_011510031.1:p.Thr35181Pro
XM_011511730.1:c.79435A>C (TTN) XP_011510032.1:p.Thr26479Pro
XM_011511731.1:c.79294A>C (TTN) XP_011510033.1:p.Thr26432Pro
XM_017004819.1:c.105337A>C (TTN) XP_016860308.1:p.Thr35113Pro
XM_017004820.1:c.100735A>C (TTN) XP_016860309.1:p.Thr33579Pro
XM_017004821.1:c.100732A>C (TTN) XP_016860310.1:p.Thr33578Pro
XM_017004822.1:c.97774A>C (TTN) XP_016860311.1:p.Thr32592Pro
XM_017004823.1:c.79390A>C (TTN) XP_016860312.1:p.Thr26464Pro
XM_024453094.1:c.100885A>C (TTN) XP_024308862.1:p.Thr33629Pro
XM_024453095.1:c.100882A>C (TTN) XP_024308863.1:p.Thr33628Pro
XM_024453096.1:c.100315A>C (TTN) XP_024308864.1:p.Thr33439Pro
XM_024453097.1:c.97657A>C (TTN) XP_024308865.1:p.Thr32553Pro
XM_024453098.1:c.97576A>C (TTN) XP_024308866.1:p.Thr32526Pro
XM_024453099.1:c.79339A>C (TTN) XP_024308867.1:p.Thr26447Pro
XM_024453100.1:c.69193A>C (TTN) XP_024308868.1:p.Thr23065Pro