Canonical Allele Identifier: CA1989121
Community Standard Title: NM_001267550.2(TTN):c.82070C>G (p.Thr27357Arg)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178564062G>C , CM000664.2:g.178564062G>C GRCh38
NC_000002.11:g.179428789G>C , CM000664.1:g.179428789G>C GRCh37
NC_000002.10:g.179137035G>C NCBI36
NG_011618.3:g.271741C>G , LRG_391:g.271741C>G
NG_051363.1:g.46236G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.82070C>G (TTN) MANE Select NP_001254479.2:p.Thr27357Arg
ENST00000589042.5:c.82070C>G (TTN) MANE Select ENSP00000467141.1:p.Thr27357Arg
NM_001256850.1:c.77147C>G (TTN) NP_001243779.1:p.Thr25716Arg
NM_003319.4:c.54875C>G (TTN) NP_003310.4:p.Thr18292Arg
NM_133378.4:c.74366C>G (TTN) NP_596869.4:p.Thr24789Arg
NM_133432.3:c.55250C>G (TTN) NP_597676.3:p.Thr18417Arg
NM_133437.4:c.55451C>G (TTN) NP_597681.4:p.Thr18484Arg
NR_038271.1:n.447-7238G>C (TTN-AS1)
NR_038272.1:n.2044-18510G>C (TTN-AS1)
ENST00000342175.10:c.55451C>G (TTN) ENSP00000340554.6:p.Thr18484Arg
ENST00000342175.11:c.55451C>G (TTN) ENSP00000340554.6:p.Thr18484Arg
ENST00000342992.10:c.74366C>G (TTN) ENSP00000343764.6:p.Thr24789Arg
ENST00000342992.11:c.74366C>G (TTN) ENSP00000343764.6:p.Thr24789Arg
ENST00000359218.10:c.55250C>G (TTN) ENSP00000352154.5:p.Thr18417Arg
ENST00000359218.9:c.55250C>G (TTN) ENSP00000352154.5:p.Thr18417Arg
ENST00000460472.6:c.54875C>G (TTN) ENSP00000434586.1:p.Thr18292Arg
ENST00000591111.5:c.77147C>G (TTN) ENSP00000465570.1:p.Thr25716Arg
ENST00000615779.4:c.77147C>G (TTN) ENSP00000483597.1:p.Thr25716Arg
XM_011511729.1:c.81167C>G (TTN) XP_011510031.1:p.Thr27056Arg
XM_011511730.1:c.55061C>G (TTN) XP_011510032.1:p.Thr18354Arg
XM_011511731.1:c.54920C>G (TTN) XP_011510033.1:p.Thr18307Arg
XM_017004819.1:c.80963C>G (TTN) XP_016860308.1:p.Thr26988Arg
XM_017004820.1:c.76361C>G (TTN) XP_016860309.1:p.Thr25454Arg
XM_017004821.1:c.76358C>G (TTN) XP_016860310.1:p.Thr25453Arg
XM_017004822.1:c.73400C>G (TTN) XP_016860311.1:p.Thr24467Arg
XM_017004823.1:c.55016C>G (TTN) XP_016860312.1:p.Thr18339Arg
XM_024453094.1:c.76511C>G (TTN) XP_024308862.1:p.Thr25504Arg
XM_024453095.1:c.76508C>G (TTN) XP_024308863.1:p.Thr25503Arg
XM_024453096.1:c.75941C>G (TTN) XP_024308864.1:p.Thr25314Arg
XM_024453097.1:c.73283C>G (TTN) XP_024308865.1:p.Thr24428Arg
XM_024453098.1:c.73202C>G (TTN) XP_024308866.1:p.Thr24401Arg
XM_024453099.1:c.54965C>G (TTN) XP_024308867.1:p.Thr18322Arg
XM_024453100.1:c.44819C>G (TTN) XP_024308868.1:p.Thr14940Arg