Canonical Allele Identifier: CA430262132
Community Standard Title: NM_001267550.2(TTN):c.66904C>T (p.Leu22302=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178580475G>A , CM000664.2:g.178580475G>A GRCh38
NC_000002.11:g.179445202G>A , CM000664.1:g.179445202G>A GRCh37
NC_000002.10:g.179153448G>A NCBI36
NG_011618.3:g.255328C>T , LRG_391:g.255328C>T
NG_051363.1:g.62649G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.66904C>T (TTN) MANE Select NP_001254479.2:p.Leu22302=
ENST00000589042.5:c.66904C>T (TTN) MANE Select ENSP00000467141.1:p.Leu22302=
NM_001256850.1:c.61981C>T (TTN) NP_001243779.1:p.Leu20661=
NM_003319.4:c.39709C>T (TTN) NP_003310.4:p.Leu13237=
NM_133378.4:c.59200C>T (TTN) NP_596869.4:p.Leu19734=
NM_133432.3:c.40084C>T (TTN) NP_597676.3:p.Leu13362=
NM_133437.4:c.40285C>T (TTN) NP_597681.4:p.Leu13429=
NR_038271.1:n.596+9026G>A (TTN-AS1)
NR_038272.1:n.2044-2097G>A (TTN-AS1)
ENST00000342175.10:c.40285C>T (TTN) ENSP00000340554.6:p.Leu13429=
ENST00000342175.11:c.40285C>T (TTN) ENSP00000340554.6:p.Leu13429=
ENST00000342992.10:c.59200C>T (TTN) ENSP00000343764.6:p.Leu19734=
ENST00000342992.11:c.59200C>T (TTN) ENSP00000343764.6:p.Leu19734=
ENST00000359218.10:c.40084C>T (TTN) ENSP00000352154.5:p.Leu13362=
ENST00000359218.9:c.40084C>T (TTN) ENSP00000352154.5:p.Leu13362=
ENST00000460472.6:c.39709C>T (TTN) ENSP00000434586.1:p.Leu13237=
ENST00000591111.5:c.61981C>T (TTN) ENSP00000465570.1:p.Leu20661=
ENST00000615779.4:c.61981C>T (TTN) ENSP00000483597.1:p.Leu20661=
XM_011511729.1:c.66001C>T (TTN) XP_011510031.1:p.Leu22001=
XM_011511730.1:c.39895C>T (TTN) XP_011510032.1:p.Leu13299=
XM_011511731.1:c.39754C>T (TTN) XP_011510033.1:p.Leu13252=
XM_017004819.1:c.65797C>T (TTN) XP_016860308.1:p.Leu21933=
XM_017004820.1:c.61195C>T (TTN) XP_016860309.1:p.Leu20399=
XM_017004821.1:c.61192C>T (TTN) XP_016860310.1:p.Leu20398=
XM_017004822.1:c.58234C>T (TTN) XP_016860311.1:p.Leu19412=
XM_017004823.1:c.39850C>T (TTN) XP_016860312.1:p.Leu13284=
XM_024453094.1:c.61345C>T (TTN) XP_024308862.1:p.Leu20449=
XM_024453095.1:c.61342C>T (TTN) XP_024308863.1:p.Leu20448=
XM_024453096.1:c.60775C>T (TTN) XP_024308864.1:p.Leu20259=
XM_024453097.1:c.58117C>T (TTN) XP_024308865.1:p.Leu19373=
XM_024453098.1:c.58036C>T (TTN) XP_024308866.1:p.Leu19346=
XM_024453099.1:c.39799C>T (TTN) XP_024308867.1:p.Leu13267=
XM_024453100.1:c.29653C>T (TTN) XP_024308868.1:p.Leu9885=