Canonical Allele Identifier: CA349407169

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98333T>G (TTN) ENSP00000343764.6:p.Ile32778Ser
ENST00000342175.11:c.79418T>G (TTN) ENSP00000340554.6:p.Ile26473Ser
ENST00000359218.10:c.79217T>G (TTN) ENSP00000352154.5:p.Ile26406Ser
ENST00000342175.10:c.79418T>G (TTN) ENSP00000340554.6:p.Ile26473Ser
ENST00000342992.10:c.98333T>G (TTN) ENSP00000343764.6:p.Ile32778Ser
ENST00000359218.9:c.79217T>G (TTN) ENSP00000352154.5:p.Ile26406Ser
ENST00000460472.6:c.78842T>G (TTN) ENSP00000434586.1:p.Ile26281Ser
ENST00000589042.5:c.106037T>G (TTN) MANE Select ENSP00000467141.1:p.Ile35346Ser
ENST00000591111.5:c.101114T>G (TTN) ENSP00000465570.1:p.Ile33705Ser
ENST00000615779.4:c.101114T>G (TTN) ENSP00000483597.1:p.Ile33705Ser
NM_001256850.1:c.101114T>G (TTN) NP_001243779.1:p.Ile33705Ser
NM_001267550.2:c.106037T>G (TTN) MANE Select NP_001254479.2:p.Ile35346Ser
NM_003319.4:c.78842T>G (TTN) NP_003310.4:p.Ile26281Ser
NM_133378.4:c.98333T>G (TTN) NP_596869.4:p.Ile32778Ser
NM_133432.3:c.79217T>G (TTN) NP_597676.3:p.Ile26406Ser
NM_133437.4:c.79418T>G (TTN) NP_597681.4:p.Ile26473Ser
NR_038271.1:n.446+6942A>C (TTN-AS1)
NR_038272.1:n.220-5154A>C (TTN-AS1)
XM_011511729.1:c.105134T>G (TTN) XP_011510031.1:p.Ile35045Ser
XM_011511730.1:c.79028T>G (TTN) XP_011510032.1:p.Ile26343Ser
XM_011511731.1:c.78887T>G (TTN) XP_011510033.1:p.Ile26296Ser
XM_017004819.1:c.104930T>G (TTN) XP_016860308.1:p.Ile34977Ser
XM_017004820.1:c.100328T>G (TTN) XP_016860309.1:p.Ile33443Ser
XM_017004821.1:c.100325T>G (TTN) XP_016860310.1:p.Ile33442Ser
XM_017004822.1:c.97367T>G (TTN) XP_016860311.1:p.Ile32456Ser
XM_017004823.1:c.78983T>G (TTN) XP_016860312.1:p.Ile26328Ser
XM_024453094.1:c.100478T>G (TTN) XP_024308862.1:p.Ile33493Ser
XM_024453095.1:c.100475T>G (TTN) XP_024308863.1:p.Ile33492Ser
XM_024453096.1:c.99908T>G (TTN) XP_024308864.1:p.Ile33303Ser
XM_024453097.1:c.97250T>G (TTN) XP_024308865.1:p.Ile32417Ser
XM_024453098.1:c.97169T>G (TTN) XP_024308866.1:p.Ile32390Ser
XM_024453099.1:c.78932T>G (TTN) XP_024308867.1:p.Ile26311Ser
XM_024453100.1:c.68786T>G (TTN) XP_024308868.1:p.Ile22929Ser