Canonical Allele Identifier: CA349406459

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530374T>A , CM000664.2:g.178530374T>A GRCh38
NC_000002.11:g.179395101T>A , CM000664.1:g.179395101T>A GRCh37
NC_000002.10:g.179103347T>A NCBI36
NG_011618.3:g.305429A>T , LRG_391:g.305429A>T
NG_051363.1:g.12548T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98537A>T (TTN) ENSP00000343764.6:p.Glu32846Val
ENST00000342175.11:c.79622A>T (TTN) ENSP00000340554.6:p.Glu26541Val
ENST00000359218.10:c.79421A>T (TTN) ENSP00000352154.5:p.Glu26474Val
ENST00000342175.10:c.79622A>T (TTN) ENSP00000340554.6:p.Glu26541Val
ENST00000342992.10:c.98537A>T (TTN) ENSP00000343764.6:p.Glu32846Val
ENST00000359218.9:c.79421A>T (TTN) ENSP00000352154.5:p.Glu26474Val
ENST00000460472.6:c.79046A>T (TTN) ENSP00000434586.1:p.Glu26349Val
ENST00000589042.5:c.106241A>T (TTN) MANE Select ENSP00000467141.1:p.Glu35414Val
ENST00000591111.5:c.101318A>T (TTN) ENSP00000465570.1:p.Glu33773Val
ENST00000615779.4:c.101318A>T (TTN) ENSP00000483597.1:p.Glu33773Val
NM_001256850.1:c.101318A>T (TTN) NP_001243779.1:p.Glu33773Val
NM_001267550.2:c.106241A>T (TTN) MANE Select NP_001254479.2:p.Glu35414Val
NM_003319.4:c.79046A>T (TTN) NP_003310.4:p.Glu26349Val
NM_133378.4:c.98537A>T (TTN) NP_596869.4:p.Glu32846Val
NM_133432.3:c.79421A>T (TTN) NP_597676.3:p.Glu26474Val
NM_133437.4:c.79622A>T (TTN) NP_597681.4:p.Glu26541Val
NR_038271.1:n.446+6738T>A (TTN-AS1)
NR_038272.1:n.220-5358T>A (TTN-AS1)
XM_011511729.1:c.105338A>T (TTN) XP_011510031.1:p.Glu35113Val
XM_011511730.1:c.79232A>T (TTN) XP_011510032.1:p.Glu26411Val
XM_011511731.1:c.79091A>T (TTN) XP_011510033.1:p.Glu26364Val
XM_017004819.1:c.105134A>T (TTN) XP_016860308.1:p.Glu35045Val
XM_017004820.1:c.100532A>T (TTN) XP_016860309.1:p.Glu33511Val
XM_017004821.1:c.100529A>T (TTN) XP_016860310.1:p.Glu33510Val
XM_017004822.1:c.97571A>T (TTN) XP_016860311.1:p.Glu32524Val
XM_017004823.1:c.79187A>T (TTN) XP_016860312.1:p.Glu26396Val
XM_024453094.1:c.100682A>T (TTN) XP_024308862.1:p.Glu33561Val
XM_024453095.1:c.100679A>T (TTN) XP_024308863.1:p.Glu33560Val
XM_024453096.1:c.100112A>T (TTN) XP_024308864.1:p.Glu33371Val
XM_024453097.1:c.97454A>T (TTN) XP_024308865.1:p.Glu32485Val
XM_024453098.1:c.97373A>T (TTN) XP_024308866.1:p.Glu32458Val
XM_024453099.1:c.79136A>T (TTN) XP_024308867.1:p.Glu26379Val
XM_024453100.1:c.68990A>T (TTN) XP_024308868.1:p.Glu22997Val