Canonical Allele Identifier: CA349411324

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532014T>A , CM000664.2:g.178532014T>A GRCh38
NC_000002.11:g.179396741T>A , CM000664.1:g.179396741T>A GRCh37
NC_000002.10:g.179104987T>A NCBI36
NG_011618.3:g.303789A>T , LRG_391:g.303789A>T
NG_051363.1:g.14188T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96897A>T (TTN) ENSP00000343764.6:p.Glu32299Asp
ENST00000342175.11:c.77982A>T (TTN) ENSP00000340554.6:p.Glu25994Asp
ENST00000359218.10:c.77781A>T (TTN) ENSP00000352154.5:p.Glu25927Asp
ENST00000342175.10:c.77982A>T (TTN) ENSP00000340554.6:p.Glu25994Asp
ENST00000342992.10:c.96897A>T (TTN) ENSP00000343764.6:p.Glu32299Asp
ENST00000359218.9:c.77781A>T (TTN) ENSP00000352154.5:p.Glu25927Asp
ENST00000460472.6:c.77406A>T (TTN) ENSP00000434586.1:p.Glu25802Asp
ENST00000589042.5:c.104601A>T (TTN) MANE Select ENSP00000467141.1:p.Glu34867Asp
ENST00000591111.5:c.99678A>T (TTN) ENSP00000465570.1:p.Glu33226Asp
ENST00000615779.4:c.99678A>T (TTN) ENSP00000483597.1:p.Glu33226Asp
NM_001256850.1:c.99678A>T (TTN) NP_001243779.1:p.Glu33226Asp
NM_001267550.2:c.104601A>T (TTN) MANE Select NP_001254479.2:p.Glu34867Asp
NM_003319.4:c.77406A>T (TTN) NP_003310.4:p.Glu25802Asp
NM_133378.4:c.96897A>T (TTN) NP_596869.4:p.Glu32299Asp
NM_133432.3:c.77781A>T (TTN) NP_597676.3:p.Glu25927Asp
NM_133437.4:c.77982A>T (TTN) NP_597681.4:p.Glu25994Asp
NR_038271.1:n.446+8378T>A (TTN-AS1)
NR_038272.1:n.220-3718T>A (TTN-AS1)
XM_011511729.1:c.103698A>T (TTN) XP_011510031.1:p.Glu34566Asp
XM_011511730.1:c.77592A>T (TTN) XP_011510032.1:p.Glu25864Asp
XM_011511731.1:c.77451A>T (TTN) XP_011510033.1:p.Glu25817Asp
XM_017004819.1:c.103494A>T (TTN) XP_016860308.1:p.Glu34498Asp
XM_017004820.1:c.98892A>T (TTN) XP_016860309.1:p.Glu32964Asp
XM_017004821.1:c.98889A>T (TTN) XP_016860310.1:p.Glu32963Asp
XM_017004822.1:c.95931A>T (TTN) XP_016860311.1:p.Glu31977Asp
XM_017004823.1:c.77547A>T (TTN) XP_016860312.1:p.Glu25849Asp
XM_024453094.1:c.99042A>T (TTN) XP_024308862.1:p.Glu33014Asp
XM_024453095.1:c.99039A>T (TTN) XP_024308863.1:p.Glu33013Asp
XM_024453096.1:c.98472A>T (TTN) XP_024308864.1:p.Glu32824Asp
XM_024453097.1:c.95814A>T (TTN) XP_024308865.1:p.Glu31938Asp
XM_024453098.1:c.95733A>T (TTN) XP_024308866.1:p.Glu31911Asp
XM_024453099.1:c.77496A>T (TTN) XP_024308867.1:p.Glu25832Asp
XM_024453100.1:c.67350A>T (TTN) XP_024308868.1:p.Glu22450Asp