Canonical Allele Identifier: CA1991537
Community Standard Title: NM_001267550.2(TTN):c.66372C>T (p.Thr22124=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178581997G>A , CM000664.2:g.178581997G>A GRCh38
NC_000002.11:g.179446724G>A , CM000664.1:g.179446724G>A GRCh37
NC_000002.10:g.179154970G>A NCBI36
NG_011618.3:g.253806C>T , LRG_391:g.253806C>T
NG_051363.1:g.64171G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.66372C>T (TTN) MANE Select NP_001254479.2:p.Thr22124=
ENST00000589042.5:c.66372C>T (TTN) MANE Select ENSP00000467141.1:p.Thr22124=
NM_001256850.1:c.61449C>T (TTN) NP_001243779.1:p.Thr20483=
NM_003319.4:c.39177C>T (TTN) NP_003310.4:p.Thr13059=
NM_133378.4:c.58668C>T (TTN) NP_596869.4:p.Thr19556=
NM_133432.3:c.39552C>T (TTN) NP_597676.3:p.Thr13184=
NM_133437.4:c.39753C>T (TTN) NP_597681.4:p.Thr13251=
NR_038271.1:n.596+10548G>A (TTN-AS1)
NR_038272.1:n.2044-575G>A (TTN-AS1)
ENST00000342175.10:c.39753C>T (TTN) ENSP00000340554.6:p.Thr13251=
ENST00000342175.11:c.39753C>T (TTN) ENSP00000340554.6:p.Thr13251=
ENST00000342992.10:c.58668C>T (TTN) ENSP00000343764.6:p.Thr19556=
ENST00000342992.11:c.58668C>T (TTN) ENSP00000343764.6:p.Thr19556=
ENST00000359218.10:c.39552C>T (TTN) ENSP00000352154.5:p.Thr13184=
ENST00000359218.9:c.39552C>T (TTN) ENSP00000352154.5:p.Thr13184=
ENST00000460472.6:c.39177C>T (TTN) ENSP00000434586.1:p.Thr13059=
ENST00000591111.5:c.61449C>T (TTN) ENSP00000465570.1:p.Thr20483=
ENST00000615779.4:c.61449C>T (TTN) ENSP00000483597.1:p.Thr20483=
XM_011511729.1:c.65469C>T (TTN) XP_011510031.1:p.Thr21823=
XM_011511730.1:c.39363C>T (TTN) XP_011510032.1:p.Thr13121=
XM_011511731.1:c.39222C>T (TTN) XP_011510033.1:p.Thr13074=
XM_017004819.1:c.65265C>T (TTN) XP_016860308.1:p.Thr21755=
XM_017004820.1:c.60663C>T (TTN) XP_016860309.1:p.Thr20221=
XM_017004821.1:c.60660C>T (TTN) XP_016860310.1:p.Thr20220=
XM_017004822.1:c.57702C>T (TTN) XP_016860311.1:p.Thr19234=
XM_017004823.1:c.39318C>T (TTN) XP_016860312.1:p.Thr13106=
XM_024453094.1:c.60813C>T (TTN) XP_024308862.1:p.Thr20271=
XM_024453095.1:c.60810C>T (TTN) XP_024308863.1:p.Thr20270=
XM_024453096.1:c.60243C>T (TTN) XP_024308864.1:p.Thr20081=
XM_024453097.1:c.57585C>T (TTN) XP_024308865.1:p.Thr19195=
XM_024453098.1:c.57504C>T (TTN) XP_024308866.1:p.Thr19168=
XM_024453099.1:c.39267C>T (TTN) XP_024308867.1:p.Thr13089=
XM_024453100.1:c.29121C>T (TTN) XP_024308868.1:p.Thr9707=