Canonical Allele Identifier: CA349542598
Community Standard Title: NM_001267550.2(TTN):c.86620G>T (p.Gly28874Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559512C>A , CM000664.2:g.178559512C>A GRCh38
NC_000002.11:g.179424239C>A , CM000664.1:g.179424239C>A GRCh37
NC_000002.10:g.179132485C>A NCBI36
NG_011618.3:g.276291G>T , LRG_391:g.276291G>T
NG_051363.1:g.41686C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.86620G>T (TTN) MANE Select NP_001254479.2:p.Gly28874Ter
ENST00000589042.5:c.86620G>T (TTN) MANE Select ENSP00000467141.1:p.Gly28874Ter
NM_001256850.1:c.81697G>T (TTN) NP_001243779.1:p.Gly27233Ter
NM_003319.4:c.59425G>T (TTN) NP_003310.4:p.Gly19809Ter
NM_133378.4:c.78916G>T (TTN) NP_596869.4:p.Gly26306Ter
NM_133432.3:c.59800G>T (TTN) NP_597676.3:p.Gly19934Ter
NM_133437.4:c.60001G>T (TTN) NP_597681.4:p.Gly20001Ter
NR_038271.1:n.447-11788C>A (TTN-AS1)
NR_038272.1:n.2043+17151C>A (TTN-AS1)
ENST00000342175.10:c.60001G>T (TTN) ENSP00000340554.6:p.Gly20001Ter
ENST00000342175.11:c.60001G>T (TTN) ENSP00000340554.6:p.Gly20001Ter
ENST00000342992.10:c.78916G>T (TTN) ENSP00000343764.6:p.Gly26306Ter
ENST00000342992.11:c.78916G>T (TTN) ENSP00000343764.6:p.Gly26306Ter
ENST00000359218.10:c.59800G>T (TTN) ENSP00000352154.5:p.Gly19934Ter
ENST00000359218.9:c.59800G>T (TTN) ENSP00000352154.5:p.Gly19934Ter
ENST00000460472.6:c.59425G>T (TTN) ENSP00000434586.1:p.Gly19809Ter
ENST00000591111.5:c.81697G>T (TTN) ENSP00000465570.1:p.Gly27233Ter
ENST00000615779.4:c.81697G>T (TTN) ENSP00000483597.1:p.Gly27233Ter
XM_011511729.1:c.85717G>T (TTN) XP_011510031.1:p.Gly28573Ter
XM_011511730.1:c.59611G>T (TTN) XP_011510032.1:p.Gly19871Ter
XM_011511731.1:c.59470G>T (TTN) XP_011510033.1:p.Gly19824Ter
XM_017004819.1:c.85513G>T (TTN) XP_016860308.1:p.Gly28505Ter
XM_017004820.1:c.80911G>T (TTN) XP_016860309.1:p.Gly26971Ter
XM_017004821.1:c.80908G>T (TTN) XP_016860310.1:p.Gly26970Ter
XM_017004822.1:c.77950G>T (TTN) XP_016860311.1:p.Gly25984Ter
XM_017004823.1:c.59566G>T (TTN) XP_016860312.1:p.Gly19856Ter
XM_024453094.1:c.81061G>T (TTN) XP_024308862.1:p.Gly27021Ter
XM_024453095.1:c.81058G>T (TTN) XP_024308863.1:p.Gly27020Ter
XM_024453096.1:c.80491G>T (TTN) XP_024308864.1:p.Gly26831Ter
XM_024453097.1:c.77833G>T (TTN) XP_024308865.1:p.Gly25945Ter
XM_024453098.1:c.77752G>T (TTN) XP_024308866.1:p.Gly25918Ter
XM_024453099.1:c.59515G>T (TTN) XP_024308867.1:p.Gly19839Ter
XM_024453100.1:c.49369G>T (TTN) XP_024308868.1:p.Gly16457Ter