Canonical Allele Identifier: CA60987239
Community Standard Title: NM_001267550.2(TTN):c.82240C>G (p.Arg27414Gly)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178563892G>C , CM000664.2:g.178563892G>C GRCh38
NC_000002.11:g.179428619G>C , CM000664.1:g.179428619G>C GRCh37
NC_000002.10:g.179136865G>C NCBI36
NG_011618.3:g.271911C>G , LRG_391:g.271911C>G
NG_051363.1:g.46066G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.82240C>G (TTN) MANE Select NP_001254479.2:p.Arg27414Gly
ENST00000589042.5:c.82240C>G (TTN) MANE Select ENSP00000467141.1:p.Arg27414Gly
NM_001256850.1:c.77317C>G (TTN) NP_001243779.1:p.Arg25773Gly
NM_003319.4:c.55045C>G (TTN) NP_003310.4:p.Arg18349Gly
NM_133378.4:c.74536C>G (TTN) NP_596869.4:p.Arg24846Gly
NM_133432.3:c.55420C>G (TTN) NP_597676.3:p.Arg18474Gly
NM_133437.4:c.55621C>G (TTN) NP_597681.4:p.Arg18541Gly
NR_038271.1:n.447-7408G>C (TTN-AS1)
NR_038272.1:n.2044-18680G>C (TTN-AS1)
ENST00000342175.10:c.55621C>G (TTN) ENSP00000340554.6:p.Arg18541Gly
ENST00000342175.11:c.55621C>G (TTN) ENSP00000340554.6:p.Arg18541Gly
ENST00000342992.10:c.74536C>G (TTN) ENSP00000343764.6:p.Arg24846Gly
ENST00000342992.11:c.74536C>G (TTN) ENSP00000343764.6:p.Arg24846Gly
ENST00000359218.10:c.55420C>G (TTN) ENSP00000352154.5:p.Arg18474Gly
ENST00000359218.9:c.55420C>G (TTN) ENSP00000352154.5:p.Arg18474Gly
ENST00000460472.6:c.55045C>G (TTN) ENSP00000434586.1:p.Arg18349Gly
ENST00000591111.5:c.77317C>G (TTN) ENSP00000465570.1:p.Arg25773Gly
ENST00000615779.4:c.77317C>G (TTN) ENSP00000483597.1:p.Arg25773Gly
XM_011511729.1:c.81337C>G (TTN) XP_011510031.1:p.Arg27113Gly
XM_011511730.1:c.55231C>G (TTN) XP_011510032.1:p.Arg18411Gly
XM_011511731.1:c.55090C>G (TTN) XP_011510033.1:p.Arg18364Gly
XM_017004819.1:c.81133C>G (TTN) XP_016860308.1:p.Arg27045Gly
XM_017004820.1:c.76531C>G (TTN) XP_016860309.1:p.Arg25511Gly
XM_017004821.1:c.76528C>G (TTN) XP_016860310.1:p.Arg25510Gly
XM_017004822.1:c.73570C>G (TTN) XP_016860311.1:p.Arg24524Gly
XM_017004823.1:c.55186C>G (TTN) XP_016860312.1:p.Arg18396Gly
XM_024453094.1:c.76681C>G (TTN) XP_024308862.1:p.Arg25561Gly
XM_024453095.1:c.76678C>G (TTN) XP_024308863.1:p.Arg25560Gly
XM_024453096.1:c.76111C>G (TTN) XP_024308864.1:p.Arg25371Gly
XM_024453097.1:c.73453C>G (TTN) XP_024308865.1:p.Arg24485Gly
XM_024453098.1:c.73372C>G (TTN) XP_024308866.1:p.Arg24458Gly
XM_024453099.1:c.55135C>G (TTN) XP_024308867.1:p.Arg18379Gly
XM_024453100.1:c.44989C>G (TTN) XP_024308868.1:p.Arg14997Gly