Canonical Allele Identifier: CA10605550
Community Standard Title: NM_001267550.2(TTN):c.66174C>T (p.Arg22058=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178582195G>A , CM000664.2:g.178582195G>A GRCh38
NC_000002.11:g.179446922G>A , CM000664.1:g.179446922G>A GRCh37
NC_000002.10:g.179155168G>A NCBI36
NG_011618.3:g.253608C>T , LRG_391:g.253608C>T
NG_051363.1:g.64369G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.66174C>T (TTN) MANE Select NP_001254479.2:p.Arg22058=
ENST00000589042.5:c.66174C>T (TTN) MANE Select ENSP00000467141.1:p.Arg22058=
NM_001256850.1:c.61251C>T (TTN) NP_001243779.1:p.Arg20417=
NM_003319.4:c.38979C>T (TTN) NP_003310.4:p.Arg12993=
NM_133378.4:c.58470C>T (TTN) NP_596869.4:p.Arg19490=
NM_133432.3:c.39354C>T (TTN) NP_597676.3:p.Arg13118=
NM_133437.4:c.39555C>T (TTN) NP_597681.4:p.Arg13185=
NR_038271.1:n.596+10746G>A (TTN-AS1)
NR_038272.1:n.2044-377G>A (TTN-AS1)
ENST00000342175.10:c.39555C>T (TTN) ENSP00000340554.6:p.Arg13185=
ENST00000342175.11:c.39555C>T (TTN) ENSP00000340554.6:p.Arg13185=
ENST00000342992.10:c.58470C>T (TTN) ENSP00000343764.6:p.Arg19490=
ENST00000342992.11:c.58470C>T (TTN) ENSP00000343764.6:p.Arg19490=
ENST00000359218.10:c.39354C>T (TTN) ENSP00000352154.5:p.Arg13118=
ENST00000359218.9:c.39354C>T (TTN) ENSP00000352154.5:p.Arg13118=
ENST00000460472.6:c.38979C>T (TTN) ENSP00000434586.1:p.Arg12993=
ENST00000591111.5:c.61251C>T (TTN) ENSP00000465570.1:p.Arg20417=
ENST00000615779.4:c.61251C>T (TTN) ENSP00000483597.1:p.Arg20417=
XM_011511729.1:c.65271C>T (TTN) XP_011510031.1:p.Arg21757=
XM_011511730.1:c.39165C>T (TTN) XP_011510032.1:p.Arg13055=
XM_011511731.1:c.39024C>T (TTN) XP_011510033.1:p.Arg13008=
XM_017004819.1:c.65067C>T (TTN) XP_016860308.1:p.Arg21689=
XM_017004820.1:c.60465C>T (TTN) XP_016860309.1:p.Arg20155=
XM_017004821.1:c.60462C>T (TTN) XP_016860310.1:p.Arg20154=
XM_017004822.1:c.57504C>T (TTN) XP_016860311.1:p.Arg19168=
XM_017004823.1:c.39120C>T (TTN) XP_016860312.1:p.Arg13040=
XM_024453094.1:c.60615C>T (TTN) XP_024308862.1:p.Arg20205=
XM_024453095.1:c.60612C>T (TTN) XP_024308863.1:p.Arg20204=
XM_024453096.1:c.60045C>T (TTN) XP_024308864.1:p.Arg20015=
XM_024453097.1:c.57387C>T (TTN) XP_024308865.1:p.Arg19129=
XM_024453098.1:c.57306C>T (TTN) XP_024308866.1:p.Arg19102=
XM_024453099.1:c.39069C>T (TTN) XP_024308867.1:p.Arg13023=
XM_024453100.1:c.28923C>T (TTN) XP_024308868.1:p.Arg9641=