Canonical Allele Identifier: CA349417274

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534060G>C , CM000664.2:g.178534060G>C GRCh38
NC_000002.11:g.179398787G>C , CM000664.1:g.179398787G>C GRCh37
NC_000002.10:g.179107033G>C NCBI36
NG_011618.3:g.301743C>G , LRG_391:g.301743C>G
NG_051363.1:g.16234G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.94851C>G (TTN) ENSP00000343764.6:p.Ile31617Met
ENST00000342175.11:c.75936C>G (TTN) ENSP00000340554.6:p.Ile25312Met
ENST00000359218.10:c.75735C>G (TTN) ENSP00000352154.5:p.Ile25245Met
ENST00000342175.10:c.75936C>G (TTN) ENSP00000340554.6:p.Ile25312Met
ENST00000342992.10:c.94851C>G (TTN) ENSP00000343764.6:p.Ile31617Met
ENST00000359218.9:c.75735C>G (TTN) ENSP00000352154.5:p.Ile25245Met
ENST00000460472.6:c.75360C>G (TTN) ENSP00000434586.1:p.Ile25120Met
ENST00000589042.5:c.102555C>G (TTN) MANE Select ENSP00000467141.1:p.Ile34185Met
ENST00000591111.5:c.97632C>G (TTN) ENSP00000465570.1:p.Ile32544Met
ENST00000615779.4:c.97632C>G (TTN) ENSP00000483597.1:p.Ile32544Met
NM_001256850.1:c.97632C>G (TTN) NP_001243779.1:p.Ile32544Met
NM_001267550.2:c.102555C>G (TTN) MANE Select NP_001254479.2:p.Ile34185Met
NM_003319.4:c.75360C>G (TTN) NP_003310.4:p.Ile25120Met
NM_133378.4:c.94851C>G (TTN) NP_596869.4:p.Ile31617Met
NM_133432.3:c.75735C>G (TTN) NP_597676.3:p.Ile25245Met
NM_133437.4:c.75936C>G (TTN) NP_597681.4:p.Ile25312Met
NR_038271.1:n.446+10424G>C (TTN-AS1)
NR_038272.1:n.220-1672G>C (TTN-AS1)
XM_011511729.1:c.101652C>G (TTN) XP_011510031.1:p.Ile33884Met
XM_011511730.1:c.75546C>G (TTN) XP_011510032.1:p.Ile25182Met
XM_011511731.1:c.75405C>G (TTN) XP_011510033.1:p.Ile25135Met
XM_017004819.1:c.101448C>G (TTN) XP_016860308.1:p.Ile33816Met
XM_017004820.1:c.96846C>G (TTN) XP_016860309.1:p.Ile32282Met
XM_017004821.1:c.96843C>G (TTN) XP_016860310.1:p.Ile32281Met
XM_017004822.1:c.93885C>G (TTN) XP_016860311.1:p.Ile31295Met
XM_017004823.1:c.75501C>G (TTN) XP_016860312.1:p.Ile25167Met
XM_024453094.1:c.96996C>G (TTN) XP_024308862.1:p.Ile32332Met
XM_024453095.1:c.96993C>G (TTN) XP_024308863.1:p.Ile32331Met
XM_024453096.1:c.96426C>G (TTN) XP_024308864.1:p.Ile32142Met
XM_024453097.1:c.93768C>G (TTN) XP_024308865.1:p.Ile31256Met
XM_024453098.1:c.93687C>G (TTN) XP_024308866.1:p.Ile31229Met
XM_024453099.1:c.75450C>G (TTN) XP_024308867.1:p.Ile25150Met
XM_024453100.1:c.65304C>G (TTN) XP_024308868.1:p.Ile21768Met