Canonical Allele Identifier: CA1988580
Community Standard Title: NM_001267550.2(TTN):c.85838C>T (p.Thr28613Ile)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560294G>A , CM000664.2:g.178560294G>A GRCh38
NC_000002.11:g.179425021G>A , CM000664.1:g.179425021G>A GRCh37
NC_000002.10:g.179133267G>A NCBI36
NG_011618.3:g.275509C>T , LRG_391:g.275509C>T
NG_051363.1:g.42468G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.85838C>T (TTN) MANE Select NP_001254479.2:p.Thr28613Ile
ENST00000589042.5:c.85838C>T (TTN) MANE Select ENSP00000467141.1:p.Thr28613Ile
NM_001256850.1:c.80915C>T (TTN) NP_001243779.1:p.Thr26972Ile
NM_003319.4:c.58643C>T (TTN) NP_003310.4:p.Thr19548Ile
NM_133378.4:c.78134C>T (TTN) NP_596869.4:p.Thr26045Ile
NM_133432.3:c.59018C>T (TTN) NP_597676.3:p.Thr19673Ile
NM_133437.4:c.59219C>T (TTN) NP_597681.4:p.Thr19740Ile
NR_038271.1:n.447-11006G>A (TTN-AS1)
NR_038272.1:n.2043+17933G>A (TTN-AS1)
ENST00000342175.10:c.59219C>T (TTN) ENSP00000340554.6:p.Thr19740Ile
ENST00000342175.11:c.59219C>T (TTN) ENSP00000340554.6:p.Thr19740Ile
ENST00000342992.10:c.78134C>T (TTN) ENSP00000343764.6:p.Thr26045Ile
ENST00000342992.11:c.78134C>T (TTN) ENSP00000343764.6:p.Thr26045Ile
ENST00000359218.10:c.59018C>T (TTN) ENSP00000352154.5:p.Thr19673Ile
ENST00000359218.9:c.59018C>T (TTN) ENSP00000352154.5:p.Thr19673Ile
ENST00000460472.6:c.58643C>T (TTN) ENSP00000434586.1:p.Thr19548Ile
ENST00000591111.5:c.80915C>T (TTN) ENSP00000465570.1:p.Thr26972Ile
ENST00000615779.4:c.80915C>T (TTN) ENSP00000483597.1:p.Thr26972Ile
XM_011511729.1:c.84935C>T (TTN) XP_011510031.1:p.Thr28312Ile
XM_011511730.1:c.58829C>T (TTN) XP_011510032.1:p.Thr19610Ile
XM_011511731.1:c.58688C>T (TTN) XP_011510033.1:p.Thr19563Ile
XM_017004819.1:c.84731C>T (TTN) XP_016860308.1:p.Thr28244Ile
XM_017004820.1:c.80129C>T (TTN) XP_016860309.1:p.Thr26710Ile
XM_017004821.1:c.80126C>T (TTN) XP_016860310.1:p.Thr26709Ile
XM_017004822.1:c.77168C>T (TTN) XP_016860311.1:p.Thr25723Ile
XM_017004823.1:c.58784C>T (TTN) XP_016860312.1:p.Thr19595Ile
XM_024453094.1:c.80279C>T (TTN) XP_024308862.1:p.Thr26760Ile
XM_024453095.1:c.80276C>T (TTN) XP_024308863.1:p.Thr26759Ile
XM_024453096.1:c.79709C>T (TTN) XP_024308864.1:p.Thr26570Ile
XM_024453097.1:c.77051C>T (TTN) XP_024308865.1:p.Thr25684Ile
XM_024453098.1:c.76970C>T (TTN) XP_024308866.1:p.Thr25657Ile
XM_024453099.1:c.58733C>T (TTN) XP_024308867.1:p.Thr19578Ile
XM_024453100.1:c.48587C>T (TTN) XP_024308868.1:p.Thr16196Ile