Canonical Allele Identifier: CA1989061
Community Standard Title: NM_001267550.2(TTN):c.82488C>T (p.Asp27496=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178563644G>A , CM000664.2:g.178563644G>A GRCh38
NC_000002.11:g.179428371G>A , CM000664.1:g.179428371G>A GRCh37
NC_000002.10:g.179136617G>A NCBI36
NG_011618.3:g.272159C>T , LRG_391:g.272159C>T
NG_051363.1:g.45818G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.82488C>T (TTN) MANE Select NP_001254479.2:p.Asp27496=
ENST00000589042.5:c.82488C>T (TTN) MANE Select ENSP00000467141.1:p.Asp27496=
NM_001256850.1:c.77565C>T (TTN) NP_001243779.1:p.Asp25855=
NM_003319.4:c.55293C>T (TTN) NP_003310.4:p.Asp18431=
NM_133378.4:c.74784C>T (TTN) NP_596869.4:p.Asp24928=
NM_133432.3:c.55668C>T (TTN) NP_597676.3:p.Asp18556=
NM_133437.4:c.55869C>T (TTN) NP_597681.4:p.Asp18623=
NR_038271.1:n.447-7656G>A (TTN-AS1)
NR_038272.1:n.2044-18928G>A (TTN-AS1)
ENST00000342175.10:c.55869C>T (TTN) ENSP00000340554.6:p.Asp18623=
ENST00000342175.11:c.55869C>T (TTN) ENSP00000340554.6:p.Asp18623=
ENST00000342992.10:c.74784C>T (TTN) ENSP00000343764.6:p.Asp24928=
ENST00000342992.11:c.74784C>T (TTN) ENSP00000343764.6:p.Asp24928=
ENST00000359218.10:c.55668C>T (TTN) ENSP00000352154.5:p.Asp18556=
ENST00000359218.9:c.55668C>T (TTN) ENSP00000352154.5:p.Asp18556=
ENST00000460472.6:c.55293C>T (TTN) ENSP00000434586.1:p.Asp18431=
ENST00000591111.5:c.77565C>T (TTN) ENSP00000465570.1:p.Asp25855=
ENST00000615779.4:c.77565C>T (TTN) ENSP00000483597.1:p.Asp25855=
XM_011511729.1:c.81585C>T (TTN) XP_011510031.1:p.Asp27195=
XM_011511730.1:c.55479C>T (TTN) XP_011510032.1:p.Asp18493=
XM_011511731.1:c.55338C>T (TTN) XP_011510033.1:p.Asp18446=
XM_017004819.1:c.81381C>T (TTN) XP_016860308.1:p.Asp27127=
XM_017004820.1:c.76779C>T (TTN) XP_016860309.1:p.Asp25593=
XM_017004821.1:c.76776C>T (TTN) XP_016860310.1:p.Asp25592=
XM_017004822.1:c.73818C>T (TTN) XP_016860311.1:p.Asp24606=
XM_017004823.1:c.55434C>T (TTN) XP_016860312.1:p.Asp18478=
XM_024453094.1:c.76929C>T (TTN) XP_024308862.1:p.Asp25643=
XM_024453095.1:c.76926C>T (TTN) XP_024308863.1:p.Asp25642=
XM_024453096.1:c.76359C>T (TTN) XP_024308864.1:p.Asp25453=
XM_024453097.1:c.73701C>T (TTN) XP_024308865.1:p.Asp24567=
XM_024453098.1:c.73620C>T (TTN) XP_024308866.1:p.Asp24540=
XM_024453099.1:c.55383C>T (TTN) XP_024308867.1:p.Asp18461=
XM_024453100.1:c.45237C>T (TTN) XP_024308868.1:p.Asp15079=