Canonical Allele Identifier: CA141453

Linked Data

ClinVar Variation Id: 47591
dbSNP Id: rs397517772

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178540307G>A , CM000664.2:g.178540307G>A GRCh38
NC_000002.11:g.179405034G>A , CM000664.1:g.179405034G>A GRCh37
NC_000002.10:g.179113280G>A NCBI36
NG_011618.3:g.295496C>T , LRG_391:g.295496C>T
NG_051363.1:g.22481G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.90155C>T (TTN) ENSP00000343764.6:p.Ala30052Val
ENST00000342175.11:c.71240C>T (TTN) ENSP00000340554.6:p.Ala23747Val
ENST00000359218.10:c.71039C>T (TTN) ENSP00000352154.5:p.Ala23680Val
ENST00000342175.10:c.71240C>T (TTN) ENSP00000340554.6:p.Ala23747Val
ENST00000342992.10:c.90155C>T (TTN) ENSP00000343764.6:p.Ala30052Val
ENST00000359218.9:c.71039C>T (TTN) ENSP00000352154.5:p.Ala23680Val
ENST00000460472.6:c.70664C>T (TTN) ENSP00000434586.1:p.Ala23555Val
ENST00000589042.5:c.97859C>T (TTN) MANE Select ENSP00000467141.1:p.Ala32620Val
ENST00000591111.5:c.92936C>T (TTN) ENSP00000465570.1:p.Ala30979Val
ENST00000615779.4:c.92936C>T (TTN) ENSP00000483597.1:p.Ala30979Val
NM_001256850.1:c.92936C>T (TTN) NP_001243779.1:p.Ala30979Val
NM_001267550.2:c.97859C>T (TTN) MANE Select NP_001254479.2:p.Ala32620Val
NM_003319.4:c.70664C>T (TTN) NP_003310.4:p.Ala23555Val
NM_133378.4:c.90155C>T (TTN) NP_596869.4:p.Ala30052Val
NM_133432.3:c.71039C>T (TTN) NP_597676.3:p.Ala23680Val
NM_133437.4:c.71240C>T (TTN) NP_597681.4:p.Ala23747Val
NR_038271.1:n.446+16671G>A (TTN-AS1)
NR_038272.1:n.1903+138G>A (TTN-AS1)
XM_011511729.1:c.96956C>T (TTN) XP_011510031.1:p.Ala32319Val
XM_011511730.1:c.70850C>T (TTN) XP_011510032.1:p.Ala23617Val
XM_011511731.1:c.70709C>T (TTN) XP_011510033.1:p.Ala23570Val
XM_017004819.1:c.96752C>T (TTN) XP_016860308.1:p.Ala32251Val
XM_017004820.1:c.92150C>T (TTN) XP_016860309.1:p.Ala30717Val
XM_017004821.1:c.92147C>T (TTN) XP_016860310.1:p.Ala30716Val
XM_017004822.1:c.89189C>T (TTN) XP_016860311.1:p.Ala29730Val
XM_017004823.1:c.70805C>T (TTN) XP_016860312.1:p.Ala23602Val
XM_024453094.1:c.92300C>T (TTN) XP_024308862.1:p.Ala30767Val
XM_024453095.1:c.92297C>T (TTN) XP_024308863.1:p.Ala30766Val
XM_024453096.1:c.91730C>T (TTN) XP_024308864.1:p.Ala30577Val
XM_024453097.1:c.89072C>T (TTN) XP_024308865.1:p.Ala29691Val
XM_024453098.1:c.88991C>T (TTN) XP_024308866.1:p.Ala29664Val
XM_024453099.1:c.70754C>T (TTN) XP_024308867.1:p.Ala23585Val
XM_024453100.1:c.60608C>T (TTN) XP_024308868.1:p.Ala20203Val