Canonical Allele Identifier: CA349611575
Community Standard Title: NM_001267550.2(TTN):c.77263C>T (p.Gln25755Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568869G>A , CM000664.2:g.178568869G>A GRCh38
NC_000002.11:g.179433596G>A , CM000664.1:g.179433596G>A GRCh37
NC_000002.10:g.179141842G>A NCBI36
NG_011618.3:g.266934C>T , LRG_391:g.266934C>T
NG_051363.1:g.51043G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.77263C>T (TTN) MANE Select NP_001254479.2:p.Gln25755Ter
ENST00000589042.5:c.77263C>T (TTN) MANE Select ENSP00000467141.1:p.Gln25755Ter
NM_001256850.1:c.72340C>T (TTN) NP_001243779.1:p.Gln24114Ter
NM_003319.4:c.50068C>T (TTN) NP_003310.4:p.Gln16690Ter
NM_133378.4:c.69559C>T (TTN) NP_596869.4:p.Gln23187Ter
NM_133432.3:c.50443C>T (TTN) NP_597676.3:p.Gln16815Ter
NM_133437.4:c.50644C>T (TTN) NP_597681.4:p.Gln16882Ter
NR_038271.1:n.447-2431G>A (TTN-AS1)
NR_038272.1:n.2044-13703G>A (TTN-AS1)
ENST00000342175.10:c.50644C>T (TTN) ENSP00000340554.6:p.Gln16882Ter
ENST00000342175.11:c.50644C>T (TTN) ENSP00000340554.6:p.Gln16882Ter
ENST00000342992.10:c.69559C>T (TTN) ENSP00000343764.6:p.Gln23187Ter
ENST00000342992.11:c.69559C>T (TTN) ENSP00000343764.6:p.Gln23187Ter
ENST00000359218.10:c.50443C>T (TTN) ENSP00000352154.5:p.Gln16815Ter
ENST00000359218.9:c.50443C>T (TTN) ENSP00000352154.5:p.Gln16815Ter
ENST00000460472.6:c.50068C>T (TTN) ENSP00000434586.1:p.Gln16690Ter
ENST00000591111.5:c.72340C>T (TTN) ENSP00000465570.1:p.Gln24114Ter
ENST00000615779.4:c.72340C>T (TTN) ENSP00000483597.1:p.Gln24114Ter
XM_011511729.1:c.76360C>T (TTN) XP_011510031.1:p.Gln25454Ter
XM_011511730.1:c.50254C>T (TTN) XP_011510032.1:p.Gln16752Ter
XM_011511731.1:c.50113C>T (TTN) XP_011510033.1:p.Gln16705Ter
XM_017004819.1:c.76156C>T (TTN) XP_016860308.1:p.Gln25386Ter
XM_017004820.1:c.71554C>T (TTN) XP_016860309.1:p.Gln23852Ter
XM_017004821.1:c.71551C>T (TTN) XP_016860310.1:p.Gln23851Ter
XM_017004822.1:c.68593C>T (TTN) XP_016860311.1:p.Gln22865Ter
XM_017004823.1:c.50209C>T (TTN) XP_016860312.1:p.Gln16737Ter
XM_024453094.1:c.71704C>T (TTN) XP_024308862.1:p.Gln23902Ter
XM_024453095.1:c.71701C>T (TTN) XP_024308863.1:p.Gln23901Ter
XM_024453096.1:c.71134C>T (TTN) XP_024308864.1:p.Gln23712Ter
XM_024453097.1:c.68476C>T (TTN) XP_024308865.1:p.Gln22826Ter
XM_024453098.1:c.68395C>T (TTN) XP_024308866.1:p.Gln22799Ter
XM_024453099.1:c.50158C>T (TTN) XP_024308867.1:p.Gln16720Ter
XM_024453100.1:c.40012C>T (TTN) XP_024308868.1:p.Gln13338Ter