Canonical Allele Identifier: CA349456185

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544330T>C , CM000664.2:g.178544330T>C GRCh38
NC_000002.11:g.179409057T>C , CM000664.1:g.179409057T>C GRCh37
NC_000002.10:g.179117303T>C NCBI36
NG_011618.3:g.291473A>G , LRG_391:g.291473A>G
NG_051363.1:g.26504T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88195A>G (TTN) ENSP00000343764.6:p.Asn29399Asp
ENST00000342175.11:c.69280A>G (TTN) ENSP00000340554.6:p.Asn23094Asp
ENST00000359218.10:c.69079A>G (TTN) ENSP00000352154.5:p.Asn23027Asp
ENST00000342175.10:c.69280A>G (TTN) ENSP00000340554.6:p.Asn23094Asp
ENST00000342992.10:c.88195A>G (TTN) ENSP00000343764.6:p.Asn29399Asp
ENST00000359218.9:c.69079A>G (TTN) ENSP00000352154.5:p.Asn23027Asp
ENST00000460472.6:c.68704A>G (TTN) ENSP00000434586.1:p.Asn22902Asp
ENST00000589042.5:c.95899A>G (TTN) MANE Select ENSP00000467141.1:p.Asn31967Asp
ENST00000591111.5:c.90976A>G (TTN) ENSP00000465570.1:p.Asn30326Asp
ENST00000615779.4:c.90976A>G (TTN) ENSP00000483597.1:p.Asn30326Asp
NM_001256850.1:c.90976A>G (TTN) NP_001243779.1:p.Asn30326Asp
NM_001267550.2:c.95899A>G (TTN) MANE Select NP_001254479.2:p.Asn31967Asp
NM_003319.4:c.68704A>G (TTN) NP_003310.4:p.Asn22902Asp
NM_133378.4:c.88195A>G (TTN) NP_596869.4:p.Asn29399Asp
NM_133432.3:c.69079A>G (TTN) NP_597676.3:p.Asn23027Asp
NM_133437.4:c.69280A>G (TTN) NP_597681.4:p.Asn23094Asp
NR_038271.1:n.446+20694T>C (TTN-AS1)
NR_038272.1:n.2043+1969T>C (TTN-AS1)
XM_011511729.1:c.94996A>G (TTN) XP_011510031.1:p.Asn31666Asp
XM_011511730.1:c.68890A>G (TTN) XP_011510032.1:p.Asn22964Asp
XM_011511731.1:c.68749A>G (TTN) XP_011510033.1:p.Asn22917Asp
XM_017004819.1:c.94792A>G (TTN) XP_016860308.1:p.Asn31598Asp
XM_017004820.1:c.90190A>G (TTN) XP_016860309.1:p.Asn30064Asp
XM_017004821.1:c.90187A>G (TTN) XP_016860310.1:p.Asn30063Asp
XM_017004822.1:c.87229A>G (TTN) XP_016860311.1:p.Asn29077Asp
XM_017004823.1:c.68845A>G (TTN) XP_016860312.1:p.Asn22949Asp
XM_024453094.1:c.90340A>G (TTN) XP_024308862.1:p.Asn30114Asp
XM_024453095.1:c.90337A>G (TTN) XP_024308863.1:p.Asn30113Asp
XM_024453096.1:c.89770A>G (TTN) XP_024308864.1:p.Asn29924Asp
XM_024453097.1:c.87112A>G (TTN) XP_024308865.1:p.Asn29038Asp
XM_024453098.1:c.87031A>G (TTN) XP_024308866.1:p.Asn29011Asp
XM_024453099.1:c.68794A>G (TTN) XP_024308867.1:p.Asn22932Asp
XM_024453100.1:c.58648A>G (TTN) XP_024308868.1:p.Asn19550Asp