Canonical Allele Identifier: CA349411845

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532228T>A , CM000664.2:g.178532228T>A GRCh38
NC_000002.11:g.179396955T>A , CM000664.1:g.179396955T>A GRCh37
NC_000002.10:g.179105201T>A NCBI36
NG_011618.3:g.303575A>T , LRG_391:g.303575A>T
NG_051363.1:g.14402T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96683A>T (TTN) ENSP00000343764.6:p.Glu32228Val
ENST00000342175.11:c.77768A>T (TTN) ENSP00000340554.6:p.Glu25923Val
ENST00000359218.10:c.77567A>T (TTN) ENSP00000352154.5:p.Glu25856Val
ENST00000342175.10:c.77768A>T (TTN) ENSP00000340554.6:p.Glu25923Val
ENST00000342992.10:c.96683A>T (TTN) ENSP00000343764.6:p.Glu32228Val
ENST00000359218.9:c.77567A>T (TTN) ENSP00000352154.5:p.Glu25856Val
ENST00000460472.6:c.77192A>T (TTN) ENSP00000434586.1:p.Glu25731Val
ENST00000589042.5:c.104387A>T (TTN) MANE Select ENSP00000467141.1:p.Glu34796Val
ENST00000591111.5:c.99464A>T (TTN) ENSP00000465570.1:p.Glu33155Val
ENST00000615779.4:c.99464A>T (TTN) ENSP00000483597.1:p.Glu33155Val
NM_001256850.1:c.99464A>T (TTN) NP_001243779.1:p.Glu33155Val
NM_001267550.2:c.104387A>T (TTN) MANE Select NP_001254479.2:p.Glu34796Val
NM_003319.4:c.77192A>T (TTN) NP_003310.4:p.Glu25731Val
NM_133378.4:c.96683A>T (TTN) NP_596869.4:p.Glu32228Val
NM_133432.3:c.77567A>T (TTN) NP_597676.3:p.Glu25856Val
NM_133437.4:c.77768A>T (TTN) NP_597681.4:p.Glu25923Val
NR_038271.1:n.446+8592T>A (TTN-AS1)
NR_038272.1:n.220-3504T>A (TTN-AS1)
XM_011511729.1:c.103484A>T (TTN) XP_011510031.1:p.Glu34495Val
XM_011511730.1:c.77378A>T (TTN) XP_011510032.1:p.Glu25793Val
XM_011511731.1:c.77237A>T (TTN) XP_011510033.1:p.Glu25746Val
XM_017004819.1:c.103280A>T (TTN) XP_016860308.1:p.Glu34427Val
XM_017004820.1:c.98678A>T (TTN) XP_016860309.1:p.Glu32893Val
XM_017004821.1:c.98675A>T (TTN) XP_016860310.1:p.Glu32892Val
XM_017004822.1:c.95717A>T (TTN) XP_016860311.1:p.Glu31906Val
XM_017004823.1:c.77333A>T (TTN) XP_016860312.1:p.Glu25778Val
XM_024453094.1:c.98828A>T (TTN) XP_024308862.1:p.Glu32943Val
XM_024453095.1:c.98825A>T (TTN) XP_024308863.1:p.Glu32942Val
XM_024453096.1:c.98258A>T (TTN) XP_024308864.1:p.Glu32753Val
XM_024453097.1:c.95600A>T (TTN) XP_024308865.1:p.Glu31867Val
XM_024453098.1:c.95519A>T (TTN) XP_024308866.1:p.Glu31840Val
XM_024453099.1:c.77282A>T (TTN) XP_024308867.1:p.Glu25761Val
XM_024453100.1:c.67136A>T (TTN) XP_024308868.1:p.Glu22379Val