Canonical Allele Identifier: CA349411721

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532172T>C , CM000664.2:g.178532172T>C GRCh38
NC_000002.11:g.179396899T>C , CM000664.1:g.179396899T>C GRCh37
NC_000002.10:g.179105145T>C NCBI36
NG_011618.3:g.303631A>G , LRG_391:g.303631A>G
NG_051363.1:g.14346T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96739A>G (TTN) ENSP00000343764.6:p.Ile32247Val
ENST00000342175.11:c.77824A>G (TTN) ENSP00000340554.6:p.Ile25942Val
ENST00000359218.10:c.77623A>G (TTN) ENSP00000352154.5:p.Ile25875Val
ENST00000342175.10:c.77824A>G (TTN) ENSP00000340554.6:p.Ile25942Val
ENST00000342992.10:c.96739A>G (TTN) ENSP00000343764.6:p.Ile32247Val
ENST00000359218.9:c.77623A>G (TTN) ENSP00000352154.5:p.Ile25875Val
ENST00000460472.6:c.77248A>G (TTN) ENSP00000434586.1:p.Ile25750Val
ENST00000589042.5:c.104443A>G (TTN) MANE Select ENSP00000467141.1:p.Ile34815Val
ENST00000591111.5:c.99520A>G (TTN) ENSP00000465570.1:p.Ile33174Val
ENST00000615779.4:c.99520A>G (TTN) ENSP00000483597.1:p.Ile33174Val
NM_001256850.1:c.99520A>G (TTN) NP_001243779.1:p.Ile33174Val
NM_001267550.2:c.104443A>G (TTN) MANE Select NP_001254479.2:p.Ile34815Val
NM_003319.4:c.77248A>G (TTN) NP_003310.4:p.Ile25750Val
NM_133378.4:c.96739A>G (TTN) NP_596869.4:p.Ile32247Val
NM_133432.3:c.77623A>G (TTN) NP_597676.3:p.Ile25875Val
NM_133437.4:c.77824A>G (TTN) NP_597681.4:p.Ile25942Val
NR_038271.1:n.446+8536T>C (TTN-AS1)
NR_038272.1:n.220-3560T>C (TTN-AS1)
XM_011511729.1:c.103540A>G (TTN) XP_011510031.1:p.Ile34514Val
XM_011511730.1:c.77434A>G (TTN) XP_011510032.1:p.Ile25812Val
XM_011511731.1:c.77293A>G (TTN) XP_011510033.1:p.Ile25765Val
XM_017004819.1:c.103336A>G (TTN) XP_016860308.1:p.Ile34446Val
XM_017004820.1:c.98734A>G (TTN) XP_016860309.1:p.Ile32912Val
XM_017004821.1:c.98731A>G (TTN) XP_016860310.1:p.Ile32911Val
XM_017004822.1:c.95773A>G (TTN) XP_016860311.1:p.Ile31925Val
XM_017004823.1:c.77389A>G (TTN) XP_016860312.1:p.Ile25797Val
XM_024453094.1:c.98884A>G (TTN) XP_024308862.1:p.Ile32962Val
XM_024453095.1:c.98881A>G (TTN) XP_024308863.1:p.Ile32961Val
XM_024453096.1:c.98314A>G (TTN) XP_024308864.1:p.Ile32772Val
XM_024453097.1:c.95656A>G (TTN) XP_024308865.1:p.Ile31886Val
XM_024453098.1:c.95575A>G (TTN) XP_024308866.1:p.Ile31859Val
XM_024453099.1:c.77338A>G (TTN) XP_024308867.1:p.Ile25780Val
XM_024453100.1:c.67192A>G (TTN) XP_024308868.1:p.Ile22398Val