Canonical Allele Identifier: CA349613758
Community Standard Title: NM_001267550.2(TTN):c.47701G>T (p.Glu15901Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178617384C>A , CM000664.2:g.178617384C>A GRCh38
NC_000002.11:g.179482111C>A , CM000664.1:g.179482111C>A GRCh37
NC_000002.10:g.179190356C>A NCBI36
NG_011618.3:g.218419G>T , LRG_391:g.218419G>T
NG_051363.1:g.99558C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.47701G>T (TTN) MANE Select NP_001254479.2:p.Glu15901Ter
ENST00000589042.5:c.47701G>T (TTN) MANE Select ENSP00000467141.1:p.Glu15901Ter
NM_001256850.1:c.42778G>T (TTN) NP_001243779.1:p.Glu14260Ter
NM_003319.4:c.20506G>T (TTN) NP_003310.4:p.Glu6836Ter
NM_133378.4:c.39997G>T (TTN) NP_596869.4:p.Glu13333Ter
NM_133432.3:c.20881G>T (TTN) NP_597676.3:p.Glu6961Ter
NM_133437.4:c.21082G>T (TTN) NP_597681.4:p.Glu7028Ter
NR_038271.1:n.1604+2010C>A (TTN-AS1)
ENST00000342175.10:c.21082G>T (TTN) ENSP00000340554.6:p.Glu7028Ter
ENST00000342175.11:c.21082G>T (TTN) ENSP00000340554.6:p.Glu7028Ter
ENST00000342992.10:c.39997G>T (TTN) ENSP00000343764.6:p.Glu13333Ter
ENST00000342992.11:c.39997G>T (TTN) ENSP00000343764.6:p.Glu13333Ter
ENST00000359218.10:c.20881G>T (TTN) ENSP00000352154.5:p.Glu6961Ter
ENST00000359218.9:c.20881G>T (TTN) ENSP00000352154.5:p.Glu6961Ter
ENST00000460472.6:c.20506G>T (TTN) ENSP00000434586.1:p.Glu6836Ter
ENST00000591111.5:c.42778G>T (TTN) ENSP00000465570.1:p.Glu14260Ter
ENST00000615779.4:c.42778G>T (TTN) ENSP00000483597.1:p.Glu14260Ter
XM_011511729.1:c.46798G>T (TTN) XP_011510031.1:p.Glu15600Ter
XM_011511730.1:c.20692G>T (TTN) XP_011510032.1:p.Glu6898Ter
XM_011511731.1:c.20551G>T (TTN) XP_011510033.1:p.Glu6851Ter
XM_017004819.1:c.46594G>T (TTN) XP_016860308.1:p.Glu15532Ter
XM_017004820.1:c.41992G>T (TTN) XP_016860309.1:p.Glu13998Ter
XM_017004821.1:c.41989G>T (TTN) XP_016860310.1:p.Glu13997Ter
XM_017004822.1:c.39031G>T (TTN) XP_016860311.1:p.Glu13011Ter
XM_017004823.1:c.20647G>T (TTN) XP_016860312.1:p.Glu6883Ter
XM_024453094.1:c.42142G>T (TTN) XP_024308862.1:p.Glu14048Ter
XM_024453095.1:c.42139G>T (TTN) XP_024308863.1:p.Glu14047Ter
XM_024453096.1:c.41572G>T (TTN) XP_024308864.1:p.Glu13858Ter
XM_024453097.1:c.38914G>T (TTN) XP_024308865.1:p.Glu12972Ter
XM_024453098.1:c.38833G>T (TTN) XP_024308866.1:p.Glu12945Ter
XM_024453099.1:c.20596G>T (TTN) XP_024308867.1:p.Glu6866Ter
XM_024453100.1:c.10450G>T (TTN) XP_024308868.1:p.Glu3484Ter