Canonical Allele Identifier: CA349398988
Community Standard Title: NM_001267550.2(TTN):c.107800G>C (p.Gly35934Arg)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527188C>G , CM000664.2:g.178527188C>G GRCh38
NC_000002.11:g.179391915C>G , CM000664.1:g.179391915C>G GRCh37
NC_000002.10:g.179100161C>G NCBI36
NG_011618.3:g.308615G>C , LRG_391:g.308615G>C
NG_051363.1:g.9362C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.107800G>C (TTN) MANE Select NP_001254479.2:p.Gly35934Arg
ENST00000589042.5:c.107800G>C (TTN) MANE Select ENSP00000467141.1:p.Gly35934Arg
NM_001256850.1:c.102877G>C (TTN) NP_001243779.1:p.Gly34293Arg
NM_003319.4:c.80605G>C (TTN) NP_003310.4:p.Gly26869Arg
NM_133378.4:c.100096G>C (TTN) NP_596869.4:p.Gly33366Arg
NM_133432.3:c.80980G>C (TTN) NP_597676.3:p.Gly26994Arg
NM_133437.4:c.81181G>C (TTN) NP_597681.4:p.Gly27061Arg
NR_038271.1:n.446+3552C>G (TTN-AS1)
NR_038272.1:n.219+3552C>G (TTN-AS1)
ENST00000342175.10:c.81181G>C (TTN) ENSP00000340554.6:p.Gly27061Arg
ENST00000342175.11:c.81181G>C (TTN) ENSP00000340554.6:p.Gly27061Arg
ENST00000342992.10:c.100096G>C (TTN) ENSP00000343764.6:p.Gly33366Arg
ENST00000342992.11:c.100096G>C (TTN) ENSP00000343764.6:p.Gly33366Arg
ENST00000359218.10:c.80980G>C (TTN) ENSP00000352154.5:p.Gly26994Arg
ENST00000359218.9:c.80980G>C (TTN) ENSP00000352154.5:p.Gly26994Arg
ENST00000460472.6:c.80605G>C (TTN) ENSP00000434586.1:p.Gly26869Arg
ENST00000591111.5:c.102877G>C (TTN) ENSP00000465570.1:p.Gly34293Arg
ENST00000615779.4:c.102877G>C (TTN) ENSP00000483597.1:p.Gly34293Arg
XM_011511729.1:c.106897G>C (TTN) XP_011510031.1:p.Gly35633Arg
XM_011511730.1:c.80791G>C (TTN) XP_011510032.1:p.Gly26931Arg
XM_011511731.1:c.80650G>C (TTN) XP_011510033.1:p.Gly26884Arg
XM_017004819.1:c.106693G>C (TTN) XP_016860308.1:p.Gly35565Arg
XM_017004820.1:c.102091G>C (TTN) XP_016860309.1:p.Gly34031Arg
XM_017004821.1:c.102088G>C (TTN) XP_016860310.1:p.Gly34030Arg
XM_017004822.1:c.99130G>C (TTN) XP_016860311.1:p.Gly33044Arg
XM_017004823.1:c.80746G>C (TTN) XP_016860312.1:p.Gly26916Arg
XM_024453094.1:c.102241G>C (TTN) XP_024308862.1:p.Gly34081Arg
XM_024453095.1:c.102238G>C (TTN) XP_024308863.1:p.Gly34080Arg
XM_024453096.1:c.101671G>C (TTN) XP_024308864.1:p.Gly33891Arg
XM_024453097.1:c.99013G>C (TTN) XP_024308865.1:p.Gly33005Arg
XM_024453098.1:c.98932G>C (TTN) XP_024308866.1:p.Gly32978Arg
XM_024453099.1:c.80695G>C (TTN) XP_024308867.1:p.Gly26899Arg
XM_024453100.1:c.70549G>C (TTN) XP_024308868.1:p.Gly23517Arg