Canonical Allele Identifier: CA349470275
Community Standard Title: NM_001267550.2(TTN):c.61675C>T (p.Gln20559Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178590050G>A , CM000664.2:g.178590050G>A GRCh38
NC_000002.11:g.179454777G>A , CM000664.1:g.179454777G>A GRCh37
NC_000002.10:g.179163023G>A NCBI36
NG_011618.3:g.245753C>T , LRG_391:g.245753C>T
NG_051363.1:g.72224G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.61675C>T (TTN) MANE Select NP_001254479.2:p.Gln20559Ter
ENST00000589042.5:c.61675C>T (TTN) MANE Select ENSP00000467141.1:p.Gln20559Ter
NM_001256850.1:c.56752C>T (TTN) NP_001243779.1:p.Gln18918Ter
NM_003319.4:c.34480C>T (TTN) NP_003310.4:p.Gln11494Ter
NM_133378.4:c.53971C>T (TTN) NP_596869.4:p.Gln17991Ter
NM_133432.3:c.34855C>T (TTN) NP_597676.3:p.Gln11619Ter
NM_133437.4:c.35056C>T (TTN) NP_597681.4:p.Gln11686Ter
NR_038271.1:n.597-7546G>A (TTN-AS1)
NR_038272.1:n.3189-1089G>A (TTN-AS1)
ENST00000342175.10:c.35056C>T (TTN) ENSP00000340554.6:p.Gln11686Ter
ENST00000342175.11:c.35056C>T (TTN) ENSP00000340554.6:p.Gln11686Ter
ENST00000342992.10:c.53971C>T (TTN) ENSP00000343764.6:p.Gln17991Ter
ENST00000342992.11:c.53971C>T (TTN) ENSP00000343764.6:p.Gln17991Ter
ENST00000359218.10:c.34855C>T (TTN) ENSP00000352154.5:p.Gln11619Ter
ENST00000359218.9:c.34855C>T (TTN) ENSP00000352154.5:p.Gln11619Ter
ENST00000460472.6:c.34480C>T (TTN) ENSP00000434586.1:p.Gln11494Ter
ENST00000591111.5:c.56752C>T (TTN) ENSP00000465570.1:p.Gln18918Ter
ENST00000615779.4:c.56752C>T (TTN) ENSP00000483597.1:p.Gln18918Ter
XM_011511729.1:c.60772C>T (TTN) XP_011510031.1:p.Gln20258Ter
XM_011511730.1:c.34666C>T (TTN) XP_011510032.1:p.Gln11556Ter
XM_011511731.1:c.34525C>T (TTN) XP_011510033.1:p.Gln11509Ter
XM_017004819.1:c.60568C>T (TTN) XP_016860308.1:p.Gln20190Ter
XM_017004820.1:c.55966C>T (TTN) XP_016860309.1:p.Gln18656Ter
XM_017004821.1:c.55963C>T (TTN) XP_016860310.1:p.Gln18655Ter
XM_017004822.1:c.53005C>T (TTN) XP_016860311.1:p.Gln17669Ter
XM_017004823.1:c.34621C>T (TTN) XP_016860312.1:p.Gln11541Ter
XM_024453094.1:c.56116C>T (TTN) XP_024308862.1:p.Gln18706Ter
XM_024453095.1:c.56113C>T (TTN) XP_024308863.1:p.Gln18705Ter
XM_024453096.1:c.55546C>T (TTN) XP_024308864.1:p.Gln18516Ter
XM_024453097.1:c.52888C>T (TTN) XP_024308865.1:p.Gln17630Ter
XM_024453098.1:c.52807C>T (TTN) XP_024308866.1:p.Gln17603Ter
XM_024453099.1:c.34570C>T (TTN) XP_024308867.1:p.Gln11524Ter
XM_024453100.1:c.24424C>T (TTN) XP_024308868.1:p.Gln8142Ter