Canonical Allele Identifier: CA1985928
Community Standard Title: NM_001267550.2(TTN):c.101108G>A (p.Arg33703Gln)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178535507C>T , CM000664.2:g.178535507C>T GRCh38
NC_000002.11:g.179400234C>T , CM000664.1:g.179400234C>T GRCh37
NC_000002.10:g.179108480C>T NCBI36
NG_011618.3:g.300296G>A , LRG_391:g.300296G>A
NG_051363.1:g.17681C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.101108G>A (TTN) MANE Select NP_001254479.2:p.Arg33703Gln
ENST00000589042.5:c.101108G>A (TTN) MANE Select ENSP00000467141.1:p.Arg33703Gln
NM_001256850.1:c.96185G>A (TTN) NP_001243779.1:p.Arg32062Gln
NM_003319.4:c.73913G>A (TTN) NP_003310.4:p.Arg24638Gln
NM_133378.4:c.93404G>A (TTN) NP_596869.4:p.Arg31135Gln
NM_133432.3:c.74288G>A (TTN) NP_597676.3:p.Arg24763Gln
NM_133437.4:c.74489G>A (TTN) NP_597681.4:p.Arg24830Gln
NR_038271.1:n.446+11871C>T (TTN-AS1)
NR_038272.1:n.220-225C>T (TTN-AS1)
ENST00000342175.10:c.74489G>A (TTN) ENSP00000340554.6:p.Arg24830Gln
ENST00000342175.11:c.74489G>A (TTN) ENSP00000340554.6:p.Arg24830Gln
ENST00000342992.10:c.93404G>A (TTN) ENSP00000343764.6:p.Arg31135Gln
ENST00000342992.11:c.93404G>A (TTN) ENSP00000343764.6:p.Arg31135Gln
ENST00000359218.10:c.74288G>A (TTN) ENSP00000352154.5:p.Arg24763Gln
ENST00000359218.9:c.74288G>A (TTN) ENSP00000352154.5:p.Arg24763Gln
ENST00000460472.6:c.73913G>A (TTN) ENSP00000434586.1:p.Arg24638Gln
ENST00000591111.5:c.96185G>A (TTN) ENSP00000465570.1:p.Arg32062Gln
ENST00000615779.4:c.96185G>A (TTN) ENSP00000483597.1:p.Arg32062Gln
XM_011511729.1:c.100205G>A (TTN) XP_011510031.1:p.Arg33402Gln
XM_011511730.1:c.74099G>A (TTN) XP_011510032.1:p.Arg24700Gln
XM_011511731.1:c.73958G>A (TTN) XP_011510033.1:p.Arg24653Gln
XM_017004819.1:c.100001G>A (TTN) XP_016860308.1:p.Arg33334Gln
XM_017004820.1:c.95399G>A (TTN) XP_016860309.1:p.Arg31800Gln
XM_017004821.1:c.95396G>A (TTN) XP_016860310.1:p.Arg31799Gln
XM_017004822.1:c.92438G>A (TTN) XP_016860311.1:p.Arg30813Gln
XM_017004823.1:c.74054G>A (TTN) XP_016860312.1:p.Arg24685Gln
XM_024453094.1:c.95549G>A (TTN) XP_024308862.1:p.Arg31850Gln
XM_024453095.1:c.95546G>A (TTN) XP_024308863.1:p.Arg31849Gln
XM_024453096.1:c.94979G>A (TTN) XP_024308864.1:p.Arg31660Gln
XM_024453097.1:c.92321G>A (TTN) XP_024308865.1:p.Arg30774Gln
XM_024453098.1:c.92240G>A (TTN) XP_024308866.1:p.Arg30747Gln
XM_024453099.1:c.74003G>A (TTN) XP_024308867.1:p.Arg24668Gln
XM_024453100.1:c.63857G>A (TTN) XP_024308868.1:p.Arg21286Gln