Canonical Allele Identifier: CA349406027

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530281C>G , CM000664.2:g.178530281C>G GRCh38
NC_000002.11:g.179395008C>G , CM000664.1:g.179395008C>G GRCh37
NC_000002.10:g.179103254C>G NCBI36
NG_011618.3:g.305522G>C , LRG_391:g.305522G>C
NG_051363.1:g.12455C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98630G>C (TTN) ENSP00000343764.6:p.Gly32877Ala
ENST00000342175.11:c.79715G>C (TTN) ENSP00000340554.6:p.Gly26572Ala
ENST00000359218.10:c.79514G>C (TTN) ENSP00000352154.5:p.Gly26505Ala
ENST00000342175.10:c.79715G>C (TTN) ENSP00000340554.6:p.Gly26572Ala
ENST00000342992.10:c.98630G>C (TTN) ENSP00000343764.6:p.Gly32877Ala
ENST00000359218.9:c.79514G>C (TTN) ENSP00000352154.5:p.Gly26505Ala
ENST00000460472.6:c.79139G>C (TTN) ENSP00000434586.1:p.Gly26380Ala
ENST00000589042.5:c.106334G>C (TTN) MANE Select ENSP00000467141.1:p.Gly35445Ala
ENST00000591111.5:c.101411G>C (TTN) ENSP00000465570.1:p.Gly33804Ala
ENST00000615779.4:c.101411G>C (TTN) ENSP00000483597.1:p.Gly33804Ala
NM_001256850.1:c.101411G>C (TTN) NP_001243779.1:p.Gly33804Ala
NM_001267550.2:c.106334G>C (TTN) MANE Select NP_001254479.2:p.Gly35445Ala
NM_003319.4:c.79139G>C (TTN) NP_003310.4:p.Gly26380Ala
NM_133378.4:c.98630G>C (TTN) NP_596869.4:p.Gly32877Ala
NM_133432.3:c.79514G>C (TTN) NP_597676.3:p.Gly26505Ala
NM_133437.4:c.79715G>C (TTN) NP_597681.4:p.Gly26572Ala
NR_038271.1:n.446+6645C>G (TTN-AS1)
NR_038272.1:n.220-5451C>G (TTN-AS1)
XM_011511729.1:c.105431G>C (TTN) XP_011510031.1:p.Gly35144Ala
XM_011511730.1:c.79325G>C (TTN) XP_011510032.1:p.Gly26442Ala
XM_011511731.1:c.79184G>C (TTN) XP_011510033.1:p.Gly26395Ala
XM_017004819.1:c.105227G>C (TTN) XP_016860308.1:p.Gly35076Ala
XM_017004820.1:c.100625G>C (TTN) XP_016860309.1:p.Gly33542Ala
XM_017004821.1:c.100622G>C (TTN) XP_016860310.1:p.Gly33541Ala
XM_017004822.1:c.97664G>C (TTN) XP_016860311.1:p.Gly32555Ala
XM_017004823.1:c.79280G>C (TTN) XP_016860312.1:p.Gly26427Ala
XM_024453094.1:c.100775G>C (TTN) XP_024308862.1:p.Gly33592Ala
XM_024453095.1:c.100772G>C (TTN) XP_024308863.1:p.Gly33591Ala
XM_024453096.1:c.100205G>C (TTN) XP_024308864.1:p.Gly33402Ala
XM_024453097.1:c.97547G>C (TTN) XP_024308865.1:p.Gly32516Ala
XM_024453098.1:c.97466G>C (TTN) XP_024308866.1:p.Gly32489Ala
XM_024453099.1:c.79229G>C (TTN) XP_024308867.1:p.Gly26410Ala
XM_024453100.1:c.69083G>C (TTN) XP_024308868.1:p.Gly23028Ala