Canonical Allele Identifier: CA349407170

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530578A>G , CM000664.2:g.178530578A>G GRCh38
NC_000002.11:g.179395305A>G , CM000664.1:g.179395305A>G GRCh37
NC_000002.10:g.179103551A>G NCBI36
NG_011618.3:g.305225T>C , LRG_391:g.305225T>C
NG_051363.1:g.12752A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98333T>C (TTN) ENSP00000343764.6:p.Ile32778Thr
ENST00000342175.11:c.79418T>C (TTN) ENSP00000340554.6:p.Ile26473Thr
ENST00000359218.10:c.79217T>C (TTN) ENSP00000352154.5:p.Ile26406Thr
ENST00000342175.10:c.79418T>C (TTN) ENSP00000340554.6:p.Ile26473Thr
ENST00000342992.10:c.98333T>C (TTN) ENSP00000343764.6:p.Ile32778Thr
ENST00000359218.9:c.79217T>C (TTN) ENSP00000352154.5:p.Ile26406Thr
ENST00000460472.6:c.78842T>C (TTN) ENSP00000434586.1:p.Ile26281Thr
ENST00000589042.5:c.106037T>C (TTN) MANE Select ENSP00000467141.1:p.Ile35346Thr
ENST00000591111.5:c.101114T>C (TTN) ENSP00000465570.1:p.Ile33705Thr
ENST00000615779.4:c.101114T>C (TTN) ENSP00000483597.1:p.Ile33705Thr
NM_001256850.1:c.101114T>C (TTN) NP_001243779.1:p.Ile33705Thr
NM_001267550.2:c.106037T>C (TTN) MANE Select NP_001254479.2:p.Ile35346Thr
NM_003319.4:c.78842T>C (TTN) NP_003310.4:p.Ile26281Thr
NM_133378.4:c.98333T>C (TTN) NP_596869.4:p.Ile32778Thr
NM_133432.3:c.79217T>C (TTN) NP_597676.3:p.Ile26406Thr
NM_133437.4:c.79418T>C (TTN) NP_597681.4:p.Ile26473Thr
NR_038271.1:n.446+6942A>G (TTN-AS1)
NR_038272.1:n.220-5154A>G (TTN-AS1)
XM_011511729.1:c.105134T>C (TTN) XP_011510031.1:p.Ile35045Thr
XM_011511730.1:c.79028T>C (TTN) XP_011510032.1:p.Ile26343Thr
XM_011511731.1:c.78887T>C (TTN) XP_011510033.1:p.Ile26296Thr
XM_017004819.1:c.104930T>C (TTN) XP_016860308.1:p.Ile34977Thr
XM_017004820.1:c.100328T>C (TTN) XP_016860309.1:p.Ile33443Thr
XM_017004821.1:c.100325T>C (TTN) XP_016860310.1:p.Ile33442Thr
XM_017004822.1:c.97367T>C (TTN) XP_016860311.1:p.Ile32456Thr
XM_017004823.1:c.78983T>C (TTN) XP_016860312.1:p.Ile26328Thr
XM_024453094.1:c.100478T>C (TTN) XP_024308862.1:p.Ile33493Thr
XM_024453095.1:c.100475T>C (TTN) XP_024308863.1:p.Ile33492Thr
XM_024453096.1:c.99908T>C (TTN) XP_024308864.1:p.Ile33303Thr
XM_024453097.1:c.97250T>C (TTN) XP_024308865.1:p.Ile32417Thr
XM_024453098.1:c.97169T>C (TTN) XP_024308866.1:p.Ile32390Thr
XM_024453099.1:c.78932T>C (TTN) XP_024308867.1:p.Ile26311Thr
XM_024453100.1:c.68786T>C (TTN) XP_024308868.1:p.Ile22929Thr