Canonical Allele Identifier: CA1988608
Community Standard Title: NM_001267550.2(TTN):c.85646C>T (p.Thr28549Ile)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560486G>A , CM000664.2:g.178560486G>A GRCh38
NC_000002.11:g.179425213G>A , CM000664.1:g.179425213G>A GRCh37
NC_000002.10:g.179133459G>A NCBI36
NG_011618.3:g.275317C>T , LRG_391:g.275317C>T
NG_051363.1:g.42660G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.85646C>T (TTN) MANE Select NP_001254479.2:p.Thr28549Ile
ENST00000589042.5:c.85646C>T (TTN) MANE Select ENSP00000467141.1:p.Thr28549Ile
NM_001256850.1:c.80723C>T (TTN) NP_001243779.1:p.Thr26908Ile
NM_003319.4:c.58451C>T (TTN) NP_003310.4:p.Thr19484Ile
NM_133378.4:c.77942C>T (TTN) NP_596869.4:p.Thr25981Ile
NM_133432.3:c.58826C>T (TTN) NP_597676.3:p.Thr19609Ile
NM_133437.4:c.59027C>T (TTN) NP_597681.4:p.Thr19676Ile
NR_038271.1:n.447-10814G>A (TTN-AS1)
NR_038272.1:n.2043+18125G>A (TTN-AS1)
ENST00000342175.10:c.59027C>T (TTN) ENSP00000340554.6:p.Thr19676Ile
ENST00000342175.11:c.59027C>T (TTN) ENSP00000340554.6:p.Thr19676Ile
ENST00000342992.10:c.77942C>T (TTN) ENSP00000343764.6:p.Thr25981Ile
ENST00000342992.11:c.77942C>T (TTN) ENSP00000343764.6:p.Thr25981Ile
ENST00000359218.10:c.58826C>T (TTN) ENSP00000352154.5:p.Thr19609Ile
ENST00000359218.9:c.58826C>T (TTN) ENSP00000352154.5:p.Thr19609Ile
ENST00000460472.6:c.58451C>T (TTN) ENSP00000434586.1:p.Thr19484Ile
ENST00000591111.5:c.80723C>T (TTN) ENSP00000465570.1:p.Thr26908Ile
ENST00000615779.4:c.80723C>T (TTN) ENSP00000483597.1:p.Thr26908Ile
XM_011511729.1:c.84743C>T (TTN) XP_011510031.1:p.Thr28248Ile
XM_011511730.1:c.58637C>T (TTN) XP_011510032.1:p.Thr19546Ile
XM_011511731.1:c.58496C>T (TTN) XP_011510033.1:p.Thr19499Ile
XM_017004819.1:c.84539C>T (TTN) XP_016860308.1:p.Thr28180Ile
XM_017004820.1:c.79937C>T (TTN) XP_016860309.1:p.Thr26646Ile
XM_017004821.1:c.79934C>T (TTN) XP_016860310.1:p.Thr26645Ile
XM_017004822.1:c.76976C>T (TTN) XP_016860311.1:p.Thr25659Ile
XM_017004823.1:c.58592C>T (TTN) XP_016860312.1:p.Thr19531Ile
XM_024453094.1:c.80087C>T (TTN) XP_024308862.1:p.Thr26696Ile
XM_024453095.1:c.80084C>T (TTN) XP_024308863.1:p.Thr26695Ile
XM_024453096.1:c.79517C>T (TTN) XP_024308864.1:p.Thr26506Ile
XM_024453097.1:c.76859C>T (TTN) XP_024308865.1:p.Thr25620Ile
XM_024453098.1:c.76778C>T (TTN) XP_024308866.1:p.Thr25593Ile
XM_024453099.1:c.58541C>T (TTN) XP_024308867.1:p.Thr19514Ile
XM_024453100.1:c.48395C>T (TTN) XP_024308868.1:p.Thr16132Ile