Canonical Allele Identifier: CA349622186
Community Standard Title: NM_001267550.2(TTN):c.46810G>T (p.Glu15604Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618740C>A , CM000664.2:g.178618740C>A GRCh38
NC_000002.11:g.179483467C>A , CM000664.1:g.179483467C>A GRCh37
NC_000002.10:g.179191712C>A NCBI36
NG_011618.3:g.217063G>T , LRG_391:g.217063G>T
NG_051363.1:g.100914C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.46810G>T (TTN) MANE Select NP_001254479.2:p.Glu15604Ter
ENST00000589042.5:c.46810G>T (TTN) MANE Select ENSP00000467141.1:p.Glu15604Ter
NM_001256850.1:c.41887G>T (TTN) NP_001243779.1:p.Glu13963Ter
NM_003319.4:c.19615G>T (TTN) NP_003310.4:p.Glu6539Ter
NM_133378.4:c.39106G>T (TTN) NP_596869.4:p.Glu13036Ter
NM_133432.3:c.19990G>T (TTN) NP_597676.3:p.Glu6664Ter
NM_133437.4:c.20191G>T (TTN) NP_597681.4:p.Glu6731Ter
NR_038271.1:n.1605-1013C>A (TTN-AS1)
ENST00000342175.10:c.20191G>T (TTN) ENSP00000340554.6:p.Glu6731Ter
ENST00000342175.11:c.20191G>T (TTN) ENSP00000340554.6:p.Glu6731Ter
ENST00000342992.10:c.39106G>T (TTN) ENSP00000343764.6:p.Glu13036Ter
ENST00000342992.11:c.39106G>T (TTN) ENSP00000343764.6:p.Glu13036Ter
ENST00000359218.10:c.19990G>T (TTN) ENSP00000352154.5:p.Glu6664Ter
ENST00000359218.9:c.19990G>T (TTN) ENSP00000352154.5:p.Glu6664Ter
ENST00000460472.6:c.19615G>T (TTN) ENSP00000434586.1:p.Glu6539Ter
ENST00000591111.5:c.41887G>T (TTN) ENSP00000465570.1:p.Glu13963Ter
ENST00000615779.4:c.41887G>T (TTN) ENSP00000483597.1:p.Glu13963Ter
XM_011511729.1:c.45907G>T (TTN) XP_011510031.1:p.Glu15303Ter
XM_011511730.1:c.19801G>T (TTN) XP_011510032.1:p.Glu6601Ter
XM_011511731.1:c.19660G>T (TTN) XP_011510033.1:p.Glu6554Ter
XM_017004819.1:c.45703G>T (TTN) XP_016860308.1:p.Glu15235Ter
XM_017004820.1:c.41101G>T (TTN) XP_016860309.1:p.Glu13701Ter
XM_017004821.1:c.41098G>T (TTN) XP_016860310.1:p.Glu13700Ter
XM_017004822.1:c.38140G>T (TTN) XP_016860311.1:p.Glu12714Ter
XM_017004823.1:c.19756G>T (TTN) XP_016860312.1:p.Glu6586Ter
XM_024453094.1:c.41251G>T (TTN) XP_024308862.1:p.Glu13751Ter
XM_024453095.1:c.41248G>T (TTN) XP_024308863.1:p.Glu13750Ter
XM_024453096.1:c.40681G>T (TTN) XP_024308864.1:p.Glu13561Ter
XM_024453097.1:c.38023G>T (TTN) XP_024308865.1:p.Glu12675Ter
XM_024453098.1:c.37942G>T (TTN) XP_024308866.1:p.Glu12648Ter
XM_024453099.1:c.19705G>T (TTN) XP_024308867.1:p.Glu6569Ter
XM_024453100.1:c.9559G>T (TTN) XP_024308868.1:p.Glu3187Ter