Canonical Allele Identifier: CA349574571
Community Standard Title: NM_001267550.2(TTN):c.82255C>T (p.Gln27419Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178563877G>A , CM000664.2:g.178563877G>A GRCh38
NC_000002.11:g.179428604G>A , CM000664.1:g.179428604G>A GRCh37
NC_000002.10:g.179136850G>A NCBI36
NG_011618.3:g.271926C>T , LRG_391:g.271926C>T
NG_051363.1:g.46051G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.82255C>T (TTN) MANE Select NP_001254479.2:p.Gln27419Ter
ENST00000589042.5:c.82255C>T (TTN) MANE Select ENSP00000467141.1:p.Gln27419Ter
NM_001256850.1:c.77332C>T (TTN) NP_001243779.1:p.Gln25778Ter
NM_003319.4:c.55060C>T (TTN) NP_003310.4:p.Gln18354Ter
NM_133378.4:c.74551C>T (TTN) NP_596869.4:p.Gln24851Ter
NM_133432.3:c.55435C>T (TTN) NP_597676.3:p.Gln18479Ter
NM_133437.4:c.55636C>T (TTN) NP_597681.4:p.Gln18546Ter
NR_038271.1:n.447-7423G>A (TTN-AS1)
NR_038272.1:n.2044-18695G>A (TTN-AS1)
ENST00000342175.10:c.55636C>T (TTN) ENSP00000340554.6:p.Gln18546Ter
ENST00000342175.11:c.55636C>T (TTN) ENSP00000340554.6:p.Gln18546Ter
ENST00000342992.10:c.74551C>T (TTN) ENSP00000343764.6:p.Gln24851Ter
ENST00000342992.11:c.74551C>T (TTN) ENSP00000343764.6:p.Gln24851Ter
ENST00000359218.10:c.55435C>T (TTN) ENSP00000352154.5:p.Gln18479Ter
ENST00000359218.9:c.55435C>T (TTN) ENSP00000352154.5:p.Gln18479Ter
ENST00000460472.6:c.55060C>T (TTN) ENSP00000434586.1:p.Gln18354Ter
ENST00000591111.5:c.77332C>T (TTN) ENSP00000465570.1:p.Gln25778Ter
ENST00000615779.4:c.77332C>T (TTN) ENSP00000483597.1:p.Gln25778Ter
XM_011511729.1:c.81352C>T (TTN) XP_011510031.1:p.Gln27118Ter
XM_011511730.1:c.55246C>T (TTN) XP_011510032.1:p.Gln18416Ter
XM_011511731.1:c.55105C>T (TTN) XP_011510033.1:p.Gln18369Ter
XM_017004819.1:c.81148C>T (TTN) XP_016860308.1:p.Gln27050Ter
XM_017004820.1:c.76546C>T (TTN) XP_016860309.1:p.Gln25516Ter
XM_017004821.1:c.76543C>T (TTN) XP_016860310.1:p.Gln25515Ter
XM_017004822.1:c.73585C>T (TTN) XP_016860311.1:p.Gln24529Ter
XM_017004823.1:c.55201C>T (TTN) XP_016860312.1:p.Gln18401Ter
XM_024453094.1:c.76696C>T (TTN) XP_024308862.1:p.Gln25566Ter
XM_024453095.1:c.76693C>T (TTN) XP_024308863.1:p.Gln25565Ter
XM_024453096.1:c.76126C>T (TTN) XP_024308864.1:p.Gln25376Ter
XM_024453097.1:c.73468C>T (TTN) XP_024308865.1:p.Gln24490Ter
XM_024453098.1:c.73387C>T (TTN) XP_024308866.1:p.Gln24463Ter
XM_024453099.1:c.55150C>T (TTN) XP_024308867.1:p.Gln18384Ter
XM_024453100.1:c.45004C>T (TTN) XP_024308868.1:p.Gln15002Ter