Canonical Allele Identifier: CA1991363
Community Standard Title: NM_001267550.2(TTN):c.67146C>T (p.Gly22382=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178580141G>A , CM000664.2:g.178580141G>A GRCh38
NC_000002.11:g.179444868G>A , CM000664.1:g.179444868G>A GRCh37
NC_000002.10:g.179153114G>A NCBI36
NG_011618.3:g.255662C>T , LRG_391:g.255662C>T
NG_051363.1:g.62315G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.67146C>T (TTN) MANE Select NP_001254479.2:p.Gly22382=
ENST00000589042.5:c.67146C>T (TTN) MANE Select ENSP00000467141.1:p.Gly22382=
NM_001256850.1:c.62223C>T (TTN) NP_001243779.1:p.Gly20741=
NM_003319.4:c.39951C>T (TTN) NP_003310.4:p.Gly13317=
NM_133378.4:c.59442C>T (TTN) NP_596869.4:p.Gly19814=
NM_133432.3:c.40326C>T (TTN) NP_597676.3:p.Gly13442=
NM_133437.4:c.40527C>T (TTN) NP_597681.4:p.Gly13509=
NR_038271.1:n.596+8692G>A (TTN-AS1)
NR_038272.1:n.2044-2431G>A (TTN-AS1)
ENST00000342175.10:c.40527C>T (TTN) ENSP00000340554.6:p.Gly13509=
ENST00000342175.11:c.40527C>T (TTN) ENSP00000340554.6:p.Gly13509=
ENST00000342992.10:c.59442C>T (TTN) ENSP00000343764.6:p.Gly19814=
ENST00000342992.11:c.59442C>T (TTN) ENSP00000343764.6:p.Gly19814=
ENST00000359218.10:c.40326C>T (TTN) ENSP00000352154.5:p.Gly13442=
ENST00000359218.9:c.40326C>T (TTN) ENSP00000352154.5:p.Gly13442=
ENST00000460472.6:c.39951C>T (TTN) ENSP00000434586.1:p.Gly13317=
ENST00000591111.5:c.62223C>T (TTN) ENSP00000465570.1:p.Gly20741=
ENST00000615779.4:c.62223C>T (TTN) ENSP00000483597.1:p.Gly20741=
XM_011511729.1:c.66243C>T (TTN) XP_011510031.1:p.Gly22081=
XM_011511730.1:c.40137C>T (TTN) XP_011510032.1:p.Gly13379=
XM_011511731.1:c.39996C>T (TTN) XP_011510033.1:p.Gly13332=
XM_017004819.1:c.66039C>T (TTN) XP_016860308.1:p.Gly22013=
XM_017004820.1:c.61437C>T (TTN) XP_016860309.1:p.Gly20479=
XM_017004821.1:c.61434C>T (TTN) XP_016860310.1:p.Gly20478=
XM_017004822.1:c.58476C>T (TTN) XP_016860311.1:p.Gly19492=
XM_017004823.1:c.40092C>T (TTN) XP_016860312.1:p.Gly13364=
XM_024453094.1:c.61587C>T (TTN) XP_024308862.1:p.Gly20529=
XM_024453095.1:c.61584C>T (TTN) XP_024308863.1:p.Gly20528=
XM_024453096.1:c.61017C>T (TTN) XP_024308864.1:p.Gly20339=
XM_024453097.1:c.58359C>T (TTN) XP_024308865.1:p.Gly19453=
XM_024453098.1:c.58278C>T (TTN) XP_024308866.1:p.Gly19426=
XM_024453099.1:c.40041C>T (TTN) XP_024308867.1:p.Gly13347=
XM_024453100.1:c.29895C>T (TTN) XP_024308868.1:p.Gly9965=