Canonical Allele Identifier: CA349398310

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527068C>A , CM000664.2:g.178527068C>A GRCh38
NC_000002.11:g.179391795C>A , CM000664.1:g.179391795C>A GRCh37
NC_000002.10:g.179100041C>A NCBI36
NG_011618.3:g.308735G>T , LRG_391:g.308735G>T
NG_051363.1:g.9242C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100216G>T (TTN) ENSP00000343764.6:p.Gly33406Trp
ENST00000342175.11:c.81301G>T (TTN) ENSP00000340554.6:p.Gly27101Trp
ENST00000359218.10:c.81100G>T (TTN) ENSP00000352154.5:p.Gly27034Trp
ENST00000342175.10:c.81301G>T (TTN) ENSP00000340554.6:p.Gly27101Trp
ENST00000342992.10:c.100216G>T (TTN) ENSP00000343764.6:p.Gly33406Trp
ENST00000359218.9:c.81100G>T (TTN) ENSP00000352154.5:p.Gly27034Trp
ENST00000460472.6:c.80725G>T (TTN) ENSP00000434586.1:p.Gly26909Trp
ENST00000589042.5:c.107920G>T (TTN) MANE Select ENSP00000467141.1:p.Gly35974Trp
ENST00000591111.5:c.102997G>T (TTN) ENSP00000465570.1:p.Gly34333Trp
ENST00000615779.4:c.102997G>T (TTN) ENSP00000483597.1:p.Gly34333Trp
NM_001256850.1:c.102997G>T (TTN) NP_001243779.1:p.Gly34333Trp
NM_001267550.2:c.107920G>T (TTN) MANE Select NP_001254479.2:p.Gly35974Trp
NM_003319.4:c.80725G>T (TTN) NP_003310.4:p.Gly26909Trp
NM_133378.4:c.100216G>T (TTN) NP_596869.4:p.Gly33406Trp
NM_133432.3:c.81100G>T (TTN) NP_597676.3:p.Gly27034Trp
NM_133437.4:c.81301G>T (TTN) NP_597681.4:p.Gly27101Trp
NR_038271.1:n.446+3432C>A (TTN-AS1)
NR_038272.1:n.219+3432C>A (TTN-AS1)
XM_011511729.1:c.107017G>T (TTN) XP_011510031.1:p.Gly35673Trp
XM_011511730.1:c.80911G>T (TTN) XP_011510032.1:p.Gly26971Trp
XM_011511731.1:c.80770G>T (TTN) XP_011510033.1:p.Gly26924Trp
XM_017004819.1:c.106813G>T (TTN) XP_016860308.1:p.Gly35605Trp
XM_017004820.1:c.102211G>T (TTN) XP_016860309.1:p.Gly34071Trp
XM_017004821.1:c.102208G>T (TTN) XP_016860310.1:p.Gly34070Trp
XM_017004822.1:c.99250G>T (TTN) XP_016860311.1:p.Gly33084Trp
XM_017004823.1:c.80866G>T (TTN) XP_016860312.1:p.Gly26956Trp
XM_024453094.1:c.102361G>T (TTN) XP_024308862.1:p.Gly34121Trp
XM_024453095.1:c.102358G>T (TTN) XP_024308863.1:p.Gly34120Trp
XM_024453096.1:c.101791G>T (TTN) XP_024308864.1:p.Gly33931Trp
XM_024453097.1:c.99133G>T (TTN) XP_024308865.1:p.Gly33045Trp
XM_024453098.1:c.99052G>T (TTN) XP_024308866.1:p.Gly33018Trp
XM_024453099.1:c.80815G>T (TTN) XP_024308867.1:p.Gly26939Trp
XM_024453100.1:c.70669G>T (TTN) XP_024308868.1:p.Gly23557Trp