Canonical Allele Identifier: CA349411681

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532156T>A , CM000664.2:g.178532156T>A GRCh38
NC_000002.11:g.179396883T>A , CM000664.1:g.179396883T>A GRCh37
NC_000002.10:g.179105129T>A NCBI36
NG_011618.3:g.303647A>T , LRG_391:g.303647A>T
NG_051363.1:g.14330T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96755A>T (TTN) ENSP00000343764.6:p.Glu32252Val
ENST00000342175.11:c.77840A>T (TTN) ENSP00000340554.6:p.Glu25947Val
ENST00000359218.10:c.77639A>T (TTN) ENSP00000352154.5:p.Glu25880Val
ENST00000342175.10:c.77840A>T (TTN) ENSP00000340554.6:p.Glu25947Val
ENST00000342992.10:c.96755A>T (TTN) ENSP00000343764.6:p.Glu32252Val
ENST00000359218.9:c.77639A>T (TTN) ENSP00000352154.5:p.Glu25880Val
ENST00000460472.6:c.77264A>T (TTN) ENSP00000434586.1:p.Glu25755Val
ENST00000589042.5:c.104459A>T (TTN) MANE Select ENSP00000467141.1:p.Glu34820Val
ENST00000591111.5:c.99536A>T (TTN) ENSP00000465570.1:p.Glu33179Val
ENST00000615779.4:c.99536A>T (TTN) ENSP00000483597.1:p.Glu33179Val
NM_001256850.1:c.99536A>T (TTN) NP_001243779.1:p.Glu33179Val
NM_001267550.2:c.104459A>T (TTN) MANE Select NP_001254479.2:p.Glu34820Val
NM_003319.4:c.77264A>T (TTN) NP_003310.4:p.Glu25755Val
NM_133378.4:c.96755A>T (TTN) NP_596869.4:p.Glu32252Val
NM_133432.3:c.77639A>T (TTN) NP_597676.3:p.Glu25880Val
NM_133437.4:c.77840A>T (TTN) NP_597681.4:p.Glu25947Val
NR_038271.1:n.446+8520T>A (TTN-AS1)
NR_038272.1:n.220-3576T>A (TTN-AS1)
XM_011511729.1:c.103556A>T (TTN) XP_011510031.1:p.Glu34519Val
XM_011511730.1:c.77450A>T (TTN) XP_011510032.1:p.Glu25817Val
XM_011511731.1:c.77309A>T (TTN) XP_011510033.1:p.Glu25770Val
XM_017004819.1:c.103352A>T (TTN) XP_016860308.1:p.Glu34451Val
XM_017004820.1:c.98750A>T (TTN) XP_016860309.1:p.Glu32917Val
XM_017004821.1:c.98747A>T (TTN) XP_016860310.1:p.Glu32916Val
XM_017004822.1:c.95789A>T (TTN) XP_016860311.1:p.Glu31930Val
XM_017004823.1:c.77405A>T (TTN) XP_016860312.1:p.Glu25802Val
XM_024453094.1:c.98900A>T (TTN) XP_024308862.1:p.Glu32967Val
XM_024453095.1:c.98897A>T (TTN) XP_024308863.1:p.Glu32966Val
XM_024453096.1:c.98330A>T (TTN) XP_024308864.1:p.Glu32777Val
XM_024453097.1:c.95672A>T (TTN) XP_024308865.1:p.Glu31891Val
XM_024453098.1:c.95591A>T (TTN) XP_024308866.1:p.Glu31864Val
XM_024453099.1:c.77354A>T (TTN) XP_024308867.1:p.Glu25785Val
XM_024453100.1:c.67208A>T (TTN) XP_024308868.1:p.Glu22403Val