Canonical Allele Identifier: CA349406180

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530305G>C , CM000664.2:g.178530305G>C GRCh38
NC_000002.11:g.179395032G>C , CM000664.1:g.179395032G>C GRCh37
NC_000002.10:g.179103278G>C NCBI36
NG_011618.3:g.305498C>G , LRG_391:g.305498C>G
NG_051363.1:g.12479G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98606C>G (TTN) ENSP00000343764.6:p.Ala32869Gly
ENST00000342175.11:c.79691C>G (TTN) ENSP00000340554.6:p.Ala26564Gly
ENST00000359218.10:c.79490C>G (TTN) ENSP00000352154.5:p.Ala26497Gly
ENST00000342175.10:c.79691C>G (TTN) ENSP00000340554.6:p.Ala26564Gly
ENST00000342992.10:c.98606C>G (TTN) ENSP00000343764.6:p.Ala32869Gly
ENST00000359218.9:c.79490C>G (TTN) ENSP00000352154.5:p.Ala26497Gly
ENST00000460472.6:c.79115C>G (TTN) ENSP00000434586.1:p.Ala26372Gly
ENST00000589042.5:c.106310C>G (TTN) MANE Select ENSP00000467141.1:p.Ala35437Gly
ENST00000591111.5:c.101387C>G (TTN) ENSP00000465570.1:p.Ala33796Gly
ENST00000615779.4:c.101387C>G (TTN) ENSP00000483597.1:p.Ala33796Gly
NM_001256850.1:c.101387C>G (TTN) NP_001243779.1:p.Ala33796Gly
NM_001267550.2:c.106310C>G (TTN) MANE Select NP_001254479.2:p.Ala35437Gly
NM_003319.4:c.79115C>G (TTN) NP_003310.4:p.Ala26372Gly
NM_133378.4:c.98606C>G (TTN) NP_596869.4:p.Ala32869Gly
NM_133432.3:c.79490C>G (TTN) NP_597676.3:p.Ala26497Gly
NM_133437.4:c.79691C>G (TTN) NP_597681.4:p.Ala26564Gly
NR_038271.1:n.446+6669G>C (TTN-AS1)
NR_038272.1:n.220-5427G>C (TTN-AS1)
XM_011511729.1:c.105407C>G (TTN) XP_011510031.1:p.Ala35136Gly
XM_011511730.1:c.79301C>G (TTN) XP_011510032.1:p.Ala26434Gly
XM_011511731.1:c.79160C>G (TTN) XP_011510033.1:p.Ala26387Gly
XM_017004819.1:c.105203C>G (TTN) XP_016860308.1:p.Ala35068Gly
XM_017004820.1:c.100601C>G (TTN) XP_016860309.1:p.Ala33534Gly
XM_017004821.1:c.100598C>G (TTN) XP_016860310.1:p.Ala33533Gly
XM_017004822.1:c.97640C>G (TTN) XP_016860311.1:p.Ala32547Gly
XM_017004823.1:c.79256C>G (TTN) XP_016860312.1:p.Ala26419Gly
XM_024453094.1:c.100751C>G (TTN) XP_024308862.1:p.Ala33584Gly
XM_024453095.1:c.100748C>G (TTN) XP_024308863.1:p.Ala33583Gly
XM_024453096.1:c.100181C>G (TTN) XP_024308864.1:p.Ala33394Gly
XM_024453097.1:c.97523C>G (TTN) XP_024308865.1:p.Ala32508Gly
XM_024453098.1:c.97442C>G (TTN) XP_024308866.1:p.Ala32481Gly
XM_024453099.1:c.79205C>G (TTN) XP_024308867.1:p.Ala26402Gly
XM_024453100.1:c.69059C>G (TTN) XP_024308868.1:p.Ala23020Gly