Canonical Allele Identifier: CA60984296
Community Standard Title: NM_001267550.2(TTN):c.85969A>T (p.Lys28657Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560163T>A , CM000664.2:g.178560163T>A GRCh38
NC_000002.11:g.179424890T>A , CM000664.1:g.179424890T>A GRCh37
NC_000002.10:g.179133136T>A NCBI36
NG_011618.3:g.275640A>T , LRG_391:g.275640A>T
NG_051363.1:g.42337T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.85969A>T (TTN) MANE Select NP_001254479.2:p.Lys28657Ter
ENST00000589042.5:c.85969A>T (TTN) MANE Select ENSP00000467141.1:p.Lys28657Ter
NM_001256850.1:c.81046A>T (TTN) NP_001243779.1:p.Lys27016Ter
NM_003319.4:c.58774A>T (TTN) NP_003310.4:p.Lys19592Ter
NM_133378.4:c.78265A>T (TTN) NP_596869.4:p.Lys26089Ter
NM_133432.3:c.59149A>T (TTN) NP_597676.3:p.Lys19717Ter
NM_133437.4:c.59350A>T (TTN) NP_597681.4:p.Lys19784Ter
NR_038271.1:n.447-11137T>A (TTN-AS1)
NR_038272.1:n.2043+17802T>A (TTN-AS1)
ENST00000342175.10:c.59350A>T (TTN) ENSP00000340554.6:p.Lys19784Ter
ENST00000342175.11:c.59350A>T (TTN) ENSP00000340554.6:p.Lys19784Ter
ENST00000342992.10:c.78265A>T (TTN) ENSP00000343764.6:p.Lys26089Ter
ENST00000342992.11:c.78265A>T (TTN) ENSP00000343764.6:p.Lys26089Ter
ENST00000359218.10:c.59149A>T (TTN) ENSP00000352154.5:p.Lys19717Ter
ENST00000359218.9:c.59149A>T (TTN) ENSP00000352154.5:p.Lys19717Ter
ENST00000460472.6:c.58774A>T (TTN) ENSP00000434586.1:p.Lys19592Ter
ENST00000591111.5:c.81046A>T (TTN) ENSP00000465570.1:p.Lys27016Ter
ENST00000615779.4:c.81046A>T (TTN) ENSP00000483597.1:p.Lys27016Ter
XM_011511729.1:c.85066A>T (TTN) XP_011510031.1:p.Lys28356Ter
XM_011511730.1:c.58960A>T (TTN) XP_011510032.1:p.Lys19654Ter
XM_011511731.1:c.58819A>T (TTN) XP_011510033.1:p.Lys19607Ter
XM_017004819.1:c.84862A>T (TTN) XP_016860308.1:p.Lys28288Ter
XM_017004820.1:c.80260A>T (TTN) XP_016860309.1:p.Lys26754Ter
XM_017004821.1:c.80257A>T (TTN) XP_016860310.1:p.Lys26753Ter
XM_017004822.1:c.77299A>T (TTN) XP_016860311.1:p.Lys25767Ter
XM_017004823.1:c.58915A>T (TTN) XP_016860312.1:p.Lys19639Ter
XM_024453094.1:c.80410A>T (TTN) XP_024308862.1:p.Lys26804Ter
XM_024453095.1:c.80407A>T (TTN) XP_024308863.1:p.Lys26803Ter
XM_024453096.1:c.79840A>T (TTN) XP_024308864.1:p.Lys26614Ter
XM_024453097.1:c.77182A>T (TTN) XP_024308865.1:p.Lys25728Ter
XM_024453098.1:c.77101A>T (TTN) XP_024308866.1:p.Lys25701Ter
XM_024453099.1:c.58864A>T (TTN) XP_024308867.1:p.Lys19622Ter
XM_024453100.1:c.48718A>T (TTN) XP_024308868.1:p.Lys16240Ter