Canonical Allele Identifier: CA349424326
Community Standard Title: NM_001267550.2(TTN):c.67174C>T (p.Gln22392Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178580113G>A , CM000664.2:g.178580113G>A GRCh38
NC_000002.11:g.179444840G>A , CM000664.1:g.179444840G>A GRCh37
NC_000002.10:g.179153086G>A NCBI36
NG_011618.3:g.255690C>T , LRG_391:g.255690C>T
NG_051363.1:g.62287G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.67174C>T (TTN) MANE Select NP_001254479.2:p.Gln22392Ter
ENST00000589042.5:c.67174C>T (TTN) MANE Select ENSP00000467141.1:p.Gln22392Ter
NM_001256850.1:c.62251C>T (TTN) NP_001243779.1:p.Gln20751Ter
NM_003319.4:c.39979C>T (TTN) NP_003310.4:p.Gln13327Ter
NM_133378.4:c.59470C>T (TTN) NP_596869.4:p.Gln19824Ter
NM_133432.3:c.40354C>T (TTN) NP_597676.3:p.Gln13452Ter
NM_133437.4:c.40555C>T (TTN) NP_597681.4:p.Gln13519Ter
NR_038271.1:n.596+8664G>A (TTN-AS1)
NR_038272.1:n.2044-2459G>A (TTN-AS1)
ENST00000342175.10:c.40555C>T (TTN) ENSP00000340554.6:p.Gln13519Ter
ENST00000342175.11:c.40555C>T (TTN) ENSP00000340554.6:p.Gln13519Ter
ENST00000342992.10:c.59470C>T (TTN) ENSP00000343764.6:p.Gln19824Ter
ENST00000342992.11:c.59470C>T (TTN) ENSP00000343764.6:p.Gln19824Ter
ENST00000359218.10:c.40354C>T (TTN) ENSP00000352154.5:p.Gln13452Ter
ENST00000359218.9:c.40354C>T (TTN) ENSP00000352154.5:p.Gln13452Ter
ENST00000460472.6:c.39979C>T (TTN) ENSP00000434586.1:p.Gln13327Ter
ENST00000591111.5:c.62251C>T (TTN) ENSP00000465570.1:p.Gln20751Ter
ENST00000615779.4:c.62251C>T (TTN) ENSP00000483597.1:p.Gln20751Ter
XM_011511729.1:c.66271C>T (TTN) XP_011510031.1:p.Gln22091Ter
XM_011511730.1:c.40165C>T (TTN) XP_011510032.1:p.Gln13389Ter
XM_011511731.1:c.40024C>T (TTN) XP_011510033.1:p.Gln13342Ter
XM_017004819.1:c.66067C>T (TTN) XP_016860308.1:p.Gln22023Ter
XM_017004820.1:c.61465C>T (TTN) XP_016860309.1:p.Gln20489Ter
XM_017004821.1:c.61462C>T (TTN) XP_016860310.1:p.Gln20488Ter
XM_017004822.1:c.58504C>T (TTN) XP_016860311.1:p.Gln19502Ter
XM_017004823.1:c.40120C>T (TTN) XP_016860312.1:p.Gln13374Ter
XM_024453094.1:c.61615C>T (TTN) XP_024308862.1:p.Gln20539Ter
XM_024453095.1:c.61612C>T (TTN) XP_024308863.1:p.Gln20538Ter
XM_024453096.1:c.61045C>T (TTN) XP_024308864.1:p.Gln20349Ter
XM_024453097.1:c.58387C>T (TTN) XP_024308865.1:p.Gln19463Ter
XM_024453098.1:c.58306C>T (TTN) XP_024308866.1:p.Gln19436Ter
XM_024453099.1:c.40069C>T (TTN) XP_024308867.1:p.Gln13357Ter
XM_024453100.1:c.29923C>T (TTN) XP_024308868.1:p.Gln9975Ter