Canonical Allele Identifier: CA349423089

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579294G>C , CM000664.2:g.178579294G>C GRCh38
NC_000002.11:g.179444021G>C , CM000664.1:g.179444021G>C GRCh37
NC_000002.10:g.179152267G>C NCBI36
NG_011618.3:g.256509C>G , LRG_391:g.256509C>G
NG_051363.1:g.61468G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.60032C>G (TTN) ENSP00000343764.6:p.Ala20011Gly
ENST00000342175.11:c.41117C>G (TTN) ENSP00000340554.6:p.Ala13706Gly
ENST00000359218.10:c.40916C>G (TTN) ENSP00000352154.5:p.Ala13639Gly
ENST00000342175.10:c.41117C>G (TTN) ENSP00000340554.6:p.Ala13706Gly
ENST00000342992.10:c.60032C>G (TTN) ENSP00000343764.6:p.Ala20011Gly
ENST00000359218.9:c.40916C>G (TTN) ENSP00000352154.5:p.Ala13639Gly
ENST00000460472.6:c.40541C>G (TTN) ENSP00000434586.1:p.Ala13514Gly
ENST00000589042.5:c.67736C>G (TTN) MANE Select ENSP00000467141.1:p.Ala22579Gly
ENST00000591111.5:c.62813C>G (TTN) ENSP00000465570.1:p.Ala20938Gly
ENST00000615779.4:c.62813C>G (TTN) ENSP00000483597.1:p.Ala20938Gly
NM_001256850.1:c.62813C>G (TTN) NP_001243779.1:p.Ala20938Gly
NM_001267550.2:c.67736C>G (TTN) MANE Select NP_001254479.2:p.Ala22579Gly
NM_003319.4:c.40541C>G (TTN) NP_003310.4:p.Ala13514Gly
NM_133378.4:c.60032C>G (TTN) NP_596869.4:p.Ala20011Gly
NM_133432.3:c.40916C>G (TTN) NP_597676.3:p.Ala13639Gly
NM_133437.4:c.41117C>G (TTN) NP_597681.4:p.Ala13706Gly
NR_038271.1:n.596+7845G>C (TTN-AS1)
NR_038272.1:n.2044-3278G>C (TTN-AS1)
XM_011511729.1:c.66833C>G (TTN) XP_011510031.1:p.Ala22278Gly
XM_011511730.1:c.40727C>G (TTN) XP_011510032.1:p.Ala13576Gly
XM_011511731.1:c.40586C>G (TTN) XP_011510033.1:p.Ala13529Gly
XM_017004819.1:c.66629C>G (TTN) XP_016860308.1:p.Ala22210Gly
XM_017004820.1:c.62027C>G (TTN) XP_016860309.1:p.Ala20676Gly
XM_017004821.1:c.62024C>G (TTN) XP_016860310.1:p.Ala20675Gly
XM_017004822.1:c.59066C>G (TTN) XP_016860311.1:p.Ala19689Gly
XM_017004823.1:c.40682C>G (TTN) XP_016860312.1:p.Ala13561Gly
XM_024453094.1:c.62177C>G (TTN) XP_024308862.1:p.Ala20726Gly
XM_024453095.1:c.62174C>G (TTN) XP_024308863.1:p.Ala20725Gly
XM_024453096.1:c.61607C>G (TTN) XP_024308864.1:p.Ala20536Gly
XM_024453097.1:c.58949C>G (TTN) XP_024308865.1:p.Ala19650Gly
XM_024453098.1:c.58868C>G (TTN) XP_024308866.1:p.Ala19623Gly
XM_024453099.1:c.40631C>G (TTN) XP_024308867.1:p.Ala13544Gly
XM_024453100.1:c.30485C>G (TTN) XP_024308868.1:p.Ala10162Gly