Canonical Allele Identifier: CA349411862

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532235A>C , CM000664.2:g.178532235A>C GRCh38
NC_000002.11:g.179396962A>C , CM000664.1:g.179396962A>C GRCh37
NC_000002.10:g.179105208A>C NCBI36
NG_011618.3:g.303568T>G , LRG_391:g.303568T>G
NG_051363.1:g.14409A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96676T>G (TTN) ENSP00000343764.6:p.Ser32226Ala
ENST00000342175.11:c.77761T>G (TTN) ENSP00000340554.6:p.Ser25921Ala
ENST00000359218.10:c.77560T>G (TTN) ENSP00000352154.5:p.Ser25854Ala
ENST00000342175.10:c.77761T>G (TTN) ENSP00000340554.6:p.Ser25921Ala
ENST00000342992.10:c.96676T>G (TTN) ENSP00000343764.6:p.Ser32226Ala
ENST00000359218.9:c.77560T>G (TTN) ENSP00000352154.5:p.Ser25854Ala
ENST00000460472.6:c.77185T>G (TTN) ENSP00000434586.1:p.Ser25729Ala
ENST00000589042.5:c.104380T>G (TTN) MANE Select ENSP00000467141.1:p.Ser34794Ala
ENST00000591111.5:c.99457T>G (TTN) ENSP00000465570.1:p.Ser33153Ala
ENST00000615779.4:c.99457T>G (TTN) ENSP00000483597.1:p.Ser33153Ala
NM_001256850.1:c.99457T>G (TTN) NP_001243779.1:p.Ser33153Ala
NM_001267550.2:c.104380T>G (TTN) MANE Select NP_001254479.2:p.Ser34794Ala
NM_003319.4:c.77185T>G (TTN) NP_003310.4:p.Ser25729Ala
NM_133378.4:c.96676T>G (TTN) NP_596869.4:p.Ser32226Ala
NM_133432.3:c.77560T>G (TTN) NP_597676.3:p.Ser25854Ala
NM_133437.4:c.77761T>G (TTN) NP_597681.4:p.Ser25921Ala
NR_038271.1:n.446+8599A>C (TTN-AS1)
NR_038272.1:n.220-3497A>C (TTN-AS1)
XM_011511729.1:c.103477T>G (TTN) XP_011510031.1:p.Ser34493Ala
XM_011511730.1:c.77371T>G (TTN) XP_011510032.1:p.Ser25791Ala
XM_011511731.1:c.77230T>G (TTN) XP_011510033.1:p.Ser25744Ala
XM_017004819.1:c.103273T>G (TTN) XP_016860308.1:p.Ser34425Ala
XM_017004820.1:c.98671T>G (TTN) XP_016860309.1:p.Ser32891Ala
XM_017004821.1:c.98668T>G (TTN) XP_016860310.1:p.Ser32890Ala
XM_017004822.1:c.95710T>G (TTN) XP_016860311.1:p.Ser31904Ala
XM_017004823.1:c.77326T>G (TTN) XP_016860312.1:p.Ser25776Ala
XM_024453094.1:c.98821T>G (TTN) XP_024308862.1:p.Ser32941Ala
XM_024453095.1:c.98818T>G (TTN) XP_024308863.1:p.Ser32940Ala
XM_024453096.1:c.98251T>G (TTN) XP_024308864.1:p.Ser32751Ala
XM_024453097.1:c.95593T>G (TTN) XP_024308865.1:p.Ser31865Ala
XM_024453098.1:c.95512T>G (TTN) XP_024308866.1:p.Ser31838Ala
XM_024453099.1:c.77275T>G (TTN) XP_024308867.1:p.Ser25759Ala
XM_024453100.1:c.67129T>G (TTN) XP_024308868.1:p.Ser22377Ala