Canonical Allele Identifier: CA349456241

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544335A>T , CM000664.2:g.178544335A>T GRCh38
NC_000002.11:g.179409062A>T , CM000664.1:g.179409062A>T GRCh37
NC_000002.10:g.179117308A>T NCBI36
NG_011618.3:g.291468T>A , LRG_391:g.291468T>A
NG_051363.1:g.26509A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88190T>A (TTN) ENSP00000343764.6:p.Ile29397Lys
ENST00000342175.11:c.69275T>A (TTN) ENSP00000340554.6:p.Ile23092Lys
ENST00000359218.10:c.69074T>A (TTN) ENSP00000352154.5:p.Ile23025Lys
ENST00000342175.10:c.69275T>A (TTN) ENSP00000340554.6:p.Ile23092Lys
ENST00000342992.10:c.88190T>A (TTN) ENSP00000343764.6:p.Ile29397Lys
ENST00000359218.9:c.69074T>A (TTN) ENSP00000352154.5:p.Ile23025Lys
ENST00000460472.6:c.68699T>A (TTN) ENSP00000434586.1:p.Ile22900Lys
ENST00000589042.5:c.95894T>A (TTN) MANE Select ENSP00000467141.1:p.Ile31965Lys
ENST00000591111.5:c.90971T>A (TTN) ENSP00000465570.1:p.Ile30324Lys
ENST00000615779.4:c.90971T>A (TTN) ENSP00000483597.1:p.Ile30324Lys
NM_001256850.1:c.90971T>A (TTN) NP_001243779.1:p.Ile30324Lys
NM_001267550.2:c.95894T>A (TTN) MANE Select NP_001254479.2:p.Ile31965Lys
NM_003319.4:c.68699T>A (TTN) NP_003310.4:p.Ile22900Lys
NM_133378.4:c.88190T>A (TTN) NP_596869.4:p.Ile29397Lys
NM_133432.3:c.69074T>A (TTN) NP_597676.3:p.Ile23025Lys
NM_133437.4:c.69275T>A (TTN) NP_597681.4:p.Ile23092Lys
NR_038271.1:n.446+20699A>T (TTN-AS1)
NR_038272.1:n.2043+1974A>T (TTN-AS1)
XM_011511729.1:c.94991T>A (TTN) XP_011510031.1:p.Ile31664Lys
XM_011511730.1:c.68885T>A (TTN) XP_011510032.1:p.Ile22962Lys
XM_011511731.1:c.68744T>A (TTN) XP_011510033.1:p.Ile22915Lys
XM_017004819.1:c.94787T>A (TTN) XP_016860308.1:p.Ile31596Lys
XM_017004820.1:c.90185T>A (TTN) XP_016860309.1:p.Ile30062Lys
XM_017004821.1:c.90182T>A (TTN) XP_016860310.1:p.Ile30061Lys
XM_017004822.1:c.87224T>A (TTN) XP_016860311.1:p.Ile29075Lys
XM_017004823.1:c.68840T>A (TTN) XP_016860312.1:p.Ile22947Lys
XM_024453094.1:c.90335T>A (TTN) XP_024308862.1:p.Ile30112Lys
XM_024453095.1:c.90332T>A (TTN) XP_024308863.1:p.Ile30111Lys
XM_024453096.1:c.89765T>A (TTN) XP_024308864.1:p.Ile29922Lys
XM_024453097.1:c.87107T>A (TTN) XP_024308865.1:p.Ile29036Lys
XM_024453098.1:c.87026T>A (TTN) XP_024308866.1:p.Ile29009Lys
XM_024453099.1:c.68789T>A (TTN) XP_024308867.1:p.Ile22930Lys
XM_024453100.1:c.58643T>A (TTN) XP_024308868.1:p.Ile19548Lys