Canonical Allele Identifier: CA349428623
Community Standard Title: NM_001267550.2(TTN):c.66637C>T (p.Gln22213Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178581631G>A , CM000664.2:g.178581631G>A GRCh38
NC_000002.11:g.179446358G>A , CM000664.1:g.179446358G>A GRCh37
NC_000002.10:g.179154604G>A NCBI36
NG_011618.3:g.254172C>T , LRG_391:g.254172C>T
NG_051363.1:g.63805G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.66637C>T (TTN) MANE Select NP_001254479.2:p.Gln22213Ter
ENST00000589042.5:c.66637C>T (TTN) MANE Select ENSP00000467141.1:p.Gln22213Ter
NM_001256850.1:c.61714C>T (TTN) NP_001243779.1:p.Gln20572Ter
NM_003319.4:c.39442C>T (TTN) NP_003310.4:p.Gln13148Ter
NM_133378.4:c.58933C>T (TTN) NP_596869.4:p.Gln19645Ter
NM_133432.3:c.39817C>T (TTN) NP_597676.3:p.Gln13273Ter
NM_133437.4:c.40018C>T (TTN) NP_597681.4:p.Gln13340Ter
NR_038271.1:n.596+10182G>A (TTN-AS1)
NR_038272.1:n.2044-941G>A (TTN-AS1)
ENST00000342175.10:c.40018C>T (TTN) ENSP00000340554.6:p.Gln13340Ter
ENST00000342175.11:c.40018C>T (TTN) ENSP00000340554.6:p.Gln13340Ter
ENST00000342992.10:c.58933C>T (TTN) ENSP00000343764.6:p.Gln19645Ter
ENST00000342992.11:c.58933C>T (TTN) ENSP00000343764.6:p.Gln19645Ter
ENST00000359218.10:c.39817C>T (TTN) ENSP00000352154.5:p.Gln13273Ter
ENST00000359218.9:c.39817C>T (TTN) ENSP00000352154.5:p.Gln13273Ter
ENST00000460472.6:c.39442C>T (TTN) ENSP00000434586.1:p.Gln13148Ter
ENST00000591111.5:c.61714C>T (TTN) ENSP00000465570.1:p.Gln20572Ter
ENST00000615779.4:c.61714C>T (TTN) ENSP00000483597.1:p.Gln20572Ter
XM_011511729.1:c.65734C>T (TTN) XP_011510031.1:p.Gln21912Ter
XM_011511730.1:c.39628C>T (TTN) XP_011510032.1:p.Gln13210Ter
XM_011511731.1:c.39487C>T (TTN) XP_011510033.1:p.Gln13163Ter
XM_017004819.1:c.65530C>T (TTN) XP_016860308.1:p.Gln21844Ter
XM_017004820.1:c.60928C>T (TTN) XP_016860309.1:p.Gln20310Ter
XM_017004821.1:c.60925C>T (TTN) XP_016860310.1:p.Gln20309Ter
XM_017004822.1:c.57967C>T (TTN) XP_016860311.1:p.Gln19323Ter
XM_017004823.1:c.39583C>T (TTN) XP_016860312.1:p.Gln13195Ter
XM_024453094.1:c.61078C>T (TTN) XP_024308862.1:p.Gln20360Ter
XM_024453095.1:c.61075C>T (TTN) XP_024308863.1:p.Gln20359Ter
XM_024453096.1:c.60508C>T (TTN) XP_024308864.1:p.Gln20170Ter
XM_024453097.1:c.57850C>T (TTN) XP_024308865.1:p.Gln19284Ter
XM_024453098.1:c.57769C>T (TTN) XP_024308866.1:p.Gln19257Ter
XM_024453099.1:c.39532C>T (TTN) XP_024308867.1:p.Gln13178Ter
XM_024453100.1:c.29386C>T (TTN) XP_024308868.1:p.Gln9796Ter