Canonical Allele Identifier: CA349621301
Community Standard Title: NM_001267550.2(TTN):c.46939G>T (p.Glu15647Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618611C>A , CM000664.2:g.178618611C>A GRCh38
NC_000002.11:g.179483338C>A , CM000664.1:g.179483338C>A GRCh37
NC_000002.10:g.179191583C>A NCBI36
NG_011618.3:g.217192G>T , LRG_391:g.217192G>T
NG_051363.1:g.100785C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.46939G>T (TTN) MANE Select NP_001254479.2:p.Glu15647Ter
ENST00000589042.5:c.46939G>T (TTN) MANE Select ENSP00000467141.1:p.Glu15647Ter
NM_001256850.1:c.42016G>T (TTN) NP_001243779.1:p.Glu14006Ter
NM_003319.4:c.19744G>T (TTN) NP_003310.4:p.Glu6582Ter
NM_133378.4:c.39235G>T (TTN) NP_596869.4:p.Glu13079Ter
NM_133432.3:c.20119G>T (TTN) NP_597676.3:p.Glu6707Ter
NM_133437.4:c.20320G>T (TTN) NP_597681.4:p.Glu6774Ter
NR_038271.1:n.1605-1142C>A (TTN-AS1)
ENST00000342175.10:c.20320G>T (TTN) ENSP00000340554.6:p.Glu6774Ter
ENST00000342175.11:c.20320G>T (TTN) ENSP00000340554.6:p.Glu6774Ter
ENST00000342992.10:c.39235G>T (TTN) ENSP00000343764.6:p.Glu13079Ter
ENST00000342992.11:c.39235G>T (TTN) ENSP00000343764.6:p.Glu13079Ter
ENST00000359218.10:c.20119G>T (TTN) ENSP00000352154.5:p.Glu6707Ter
ENST00000359218.9:c.20119G>T (TTN) ENSP00000352154.5:p.Glu6707Ter
ENST00000460472.6:c.19744G>T (TTN) ENSP00000434586.1:p.Glu6582Ter
ENST00000591111.5:c.42016G>T (TTN) ENSP00000465570.1:p.Glu14006Ter
ENST00000615779.4:c.42016G>T (TTN) ENSP00000483597.1:p.Glu14006Ter
XM_011511729.1:c.46036G>T (TTN) XP_011510031.1:p.Glu15346Ter
XM_011511730.1:c.19930G>T (TTN) XP_011510032.1:p.Glu6644Ter
XM_011511731.1:c.19789G>T (TTN) XP_011510033.1:p.Glu6597Ter
XM_017004819.1:c.45832G>T (TTN) XP_016860308.1:p.Glu15278Ter
XM_017004820.1:c.41230G>T (TTN) XP_016860309.1:p.Glu13744Ter
XM_017004821.1:c.41227G>T (TTN) XP_016860310.1:p.Glu13743Ter
XM_017004822.1:c.38269G>T (TTN) XP_016860311.1:p.Glu12757Ter
XM_017004823.1:c.19885G>T (TTN) XP_016860312.1:p.Glu6629Ter
XM_024453094.1:c.41380G>T (TTN) XP_024308862.1:p.Glu13794Ter
XM_024453095.1:c.41377G>T (TTN) XP_024308863.1:p.Glu13793Ter
XM_024453096.1:c.40810G>T (TTN) XP_024308864.1:p.Glu13604Ter
XM_024453097.1:c.38152G>T (TTN) XP_024308865.1:p.Glu12718Ter
XM_024453098.1:c.38071G>T (TTN) XP_024308866.1:p.Glu12691Ter
XM_024453099.1:c.19834G>T (TTN) XP_024308867.1:p.Glu6612Ter
XM_024453100.1:c.9688G>T (TTN) XP_024308868.1:p.Glu3230Ter