Canonical Allele Identifier: CA349563236
Community Standard Title: NM_001267550.2(TTN):c.83971C>T (p.Gln27991Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562161G>A , CM000664.2:g.178562161G>A GRCh38
NC_000002.11:g.179426888G>A , CM000664.1:g.179426888G>A GRCh37
NC_000002.10:g.179135134G>A NCBI36
NG_011618.3:g.273642C>T , LRG_391:g.273642C>T
NG_051363.1:g.44335G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.83971C>T (TTN) MANE Select NP_001254479.2:p.Gln27991Ter
ENST00000589042.5:c.83971C>T (TTN) MANE Select ENSP00000467141.1:p.Gln27991Ter
NM_001256850.1:c.79048C>T (TTN) NP_001243779.1:p.Gln26350Ter
NM_003319.4:c.56776C>T (TTN) NP_003310.4:p.Gln18926Ter
NM_133378.4:c.76267C>T (TTN) NP_596869.4:p.Gln25423Ter
NM_133432.3:c.57151C>T (TTN) NP_597676.3:p.Gln19051Ter
NM_133437.4:c.57352C>T (TTN) NP_597681.4:p.Gln19118Ter
NR_038271.1:n.447-9139G>A (TTN-AS1)
NR_038272.1:n.2043+19800G>A (TTN-AS1)
ENST00000342175.10:c.57352C>T (TTN) ENSP00000340554.6:p.Gln19118Ter
ENST00000342175.11:c.57352C>T (TTN) ENSP00000340554.6:p.Gln19118Ter
ENST00000342992.10:c.76267C>T (TTN) ENSP00000343764.6:p.Gln25423Ter
ENST00000342992.11:c.76267C>T (TTN) ENSP00000343764.6:p.Gln25423Ter
ENST00000359218.10:c.57151C>T (TTN) ENSP00000352154.5:p.Gln19051Ter
ENST00000359218.9:c.57151C>T (TTN) ENSP00000352154.5:p.Gln19051Ter
ENST00000460472.6:c.56776C>T (TTN) ENSP00000434586.1:p.Gln18926Ter
ENST00000591111.5:c.79048C>T (TTN) ENSP00000465570.1:p.Gln26350Ter
ENST00000615779.4:c.79048C>T (TTN) ENSP00000483597.1:p.Gln26350Ter
XM_011511729.1:c.83068C>T (TTN) XP_011510031.1:p.Gln27690Ter
XM_011511730.1:c.56962C>T (TTN) XP_011510032.1:p.Gln18988Ter
XM_011511731.1:c.56821C>T (TTN) XP_011510033.1:p.Gln18941Ter
XM_017004819.1:c.82864C>T (TTN) XP_016860308.1:p.Gln27622Ter
XM_017004820.1:c.78262C>T (TTN) XP_016860309.1:p.Gln26088Ter
XM_017004821.1:c.78259C>T (TTN) XP_016860310.1:p.Gln26087Ter
XM_017004822.1:c.75301C>T (TTN) XP_016860311.1:p.Gln25101Ter
XM_017004823.1:c.56917C>T (TTN) XP_016860312.1:p.Gln18973Ter
XM_024453094.1:c.78412C>T (TTN) XP_024308862.1:p.Gln26138Ter
XM_024453095.1:c.78409C>T (TTN) XP_024308863.1:p.Gln26137Ter
XM_024453096.1:c.77842C>T (TTN) XP_024308864.1:p.Gln25948Ter
XM_024453097.1:c.75184C>T (TTN) XP_024308865.1:p.Gln25062Ter
XM_024453098.1:c.75103C>T (TTN) XP_024308866.1:p.Gln25035Ter
XM_024453099.1:c.56866C>T (TTN) XP_024308867.1:p.Gln18956Ter
XM_024453100.1:c.46720C>T (TTN) XP_024308868.1:p.Gln15574Ter