Canonical Allele Identifier: CA349407075

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530534T>A , CM000664.2:g.178530534T>A GRCh38
NC_000002.11:g.179395261T>A , CM000664.1:g.179395261T>A GRCh37
NC_000002.10:g.179103507T>A NCBI36
NG_011618.3:g.305269A>T , LRG_391:g.305269A>T
NG_051363.1:g.12708T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98377A>T (TTN) ENSP00000343764.6:p.Ile32793Phe
ENST00000342175.11:c.79462A>T (TTN) ENSP00000340554.6:p.Ile26488Phe
ENST00000359218.10:c.79261A>T (TTN) ENSP00000352154.5:p.Ile26421Phe
ENST00000342175.10:c.79462A>T (TTN) ENSP00000340554.6:p.Ile26488Phe
ENST00000342992.10:c.98377A>T (TTN) ENSP00000343764.6:p.Ile32793Phe
ENST00000359218.9:c.79261A>T (TTN) ENSP00000352154.5:p.Ile26421Phe
ENST00000460472.6:c.78886A>T (TTN) ENSP00000434586.1:p.Ile26296Phe
ENST00000589042.5:c.106081A>T (TTN) MANE Select ENSP00000467141.1:p.Ile35361Phe
ENST00000591111.5:c.101158A>T (TTN) ENSP00000465570.1:p.Ile33720Phe
ENST00000615779.4:c.101158A>T (TTN) ENSP00000483597.1:p.Ile33720Phe
NM_001256850.1:c.101158A>T (TTN) NP_001243779.1:p.Ile33720Phe
NM_001267550.2:c.106081A>T (TTN) MANE Select NP_001254479.2:p.Ile35361Phe
NM_003319.4:c.78886A>T (TTN) NP_003310.4:p.Ile26296Phe
NM_133378.4:c.98377A>T (TTN) NP_596869.4:p.Ile32793Phe
NM_133432.3:c.79261A>T (TTN) NP_597676.3:p.Ile26421Phe
NM_133437.4:c.79462A>T (TTN) NP_597681.4:p.Ile26488Phe
NR_038271.1:n.446+6898T>A (TTN-AS1)
NR_038272.1:n.220-5198T>A (TTN-AS1)
XM_011511729.1:c.105178A>T (TTN) XP_011510031.1:p.Ile35060Phe
XM_011511730.1:c.79072A>T (TTN) XP_011510032.1:p.Ile26358Phe
XM_011511731.1:c.78931A>T (TTN) XP_011510033.1:p.Ile26311Phe
XM_017004819.1:c.104974A>T (TTN) XP_016860308.1:p.Ile34992Phe
XM_017004820.1:c.100372A>T (TTN) XP_016860309.1:p.Ile33458Phe
XM_017004821.1:c.100369A>T (TTN) XP_016860310.1:p.Ile33457Phe
XM_017004822.1:c.97411A>T (TTN) XP_016860311.1:p.Ile32471Phe
XM_017004823.1:c.79027A>T (TTN) XP_016860312.1:p.Ile26343Phe
XM_024453094.1:c.100522A>T (TTN) XP_024308862.1:p.Ile33508Phe
XM_024453095.1:c.100519A>T (TTN) XP_024308863.1:p.Ile33507Phe
XM_024453096.1:c.99952A>T (TTN) XP_024308864.1:p.Ile33318Phe
XM_024453097.1:c.97294A>T (TTN) XP_024308865.1:p.Ile32432Phe
XM_024453098.1:c.97213A>T (TTN) XP_024308866.1:p.Ile32405Phe
XM_024453099.1:c.78976A>T (TTN) XP_024308867.1:p.Ile26326Phe
XM_024453100.1:c.68830A>T (TTN) XP_024308868.1:p.Ile22944Phe