Canonical Allele Identifier: CA349411736

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532179T>C , CM000664.2:g.178532179T>C GRCh38
NC_000002.11:g.179396906T>C , CM000664.1:g.179396906T>C GRCh37
NC_000002.10:g.179105152T>C NCBI36
NG_011618.3:g.303624A>G , LRG_391:g.303624A>G
NG_051363.1:g.14353T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96732A>G (TTN) ENSP00000343764.6:p.Ile32244Met
ENST00000342175.11:c.77817A>G (TTN) ENSP00000340554.6:p.Ile25939Met
ENST00000359218.10:c.77616A>G (TTN) ENSP00000352154.5:p.Ile25872Met
ENST00000342175.10:c.77817A>G (TTN) ENSP00000340554.6:p.Ile25939Met
ENST00000342992.10:c.96732A>G (TTN) ENSP00000343764.6:p.Ile32244Met
ENST00000359218.9:c.77616A>G (TTN) ENSP00000352154.5:p.Ile25872Met
ENST00000460472.6:c.77241A>G (TTN) ENSP00000434586.1:p.Ile25747Met
ENST00000589042.5:c.104436A>G (TTN) MANE Select ENSP00000467141.1:p.Ile34812Met
ENST00000591111.5:c.99513A>G (TTN) ENSP00000465570.1:p.Ile33171Met
ENST00000615779.4:c.99513A>G (TTN) ENSP00000483597.1:p.Ile33171Met
NM_001256850.1:c.99513A>G (TTN) NP_001243779.1:p.Ile33171Met
NM_001267550.2:c.104436A>G (TTN) MANE Select NP_001254479.2:p.Ile34812Met
NM_003319.4:c.77241A>G (TTN) NP_003310.4:p.Ile25747Met
NM_133378.4:c.96732A>G (TTN) NP_596869.4:p.Ile32244Met
NM_133432.3:c.77616A>G (TTN) NP_597676.3:p.Ile25872Met
NM_133437.4:c.77817A>G (TTN) NP_597681.4:p.Ile25939Met
NR_038271.1:n.446+8543T>C (TTN-AS1)
NR_038272.1:n.220-3553T>C (TTN-AS1)
XM_011511729.1:c.103533A>G (TTN) XP_011510031.1:p.Ile34511Met
XM_011511730.1:c.77427A>G (TTN) XP_011510032.1:p.Ile25809Met
XM_011511731.1:c.77286A>G (TTN) XP_011510033.1:p.Ile25762Met
XM_017004819.1:c.103329A>G (TTN) XP_016860308.1:p.Ile34443Met
XM_017004820.1:c.98727A>G (TTN) XP_016860309.1:p.Ile32909Met
XM_017004821.1:c.98724A>G (TTN) XP_016860310.1:p.Ile32908Met
XM_017004822.1:c.95766A>G (TTN) XP_016860311.1:p.Ile31922Met
XM_017004823.1:c.77382A>G (TTN) XP_016860312.1:p.Ile25794Met
XM_024453094.1:c.98877A>G (TTN) XP_024308862.1:p.Ile32959Met
XM_024453095.1:c.98874A>G (TTN) XP_024308863.1:p.Ile32958Met
XM_024453096.1:c.98307A>G (TTN) XP_024308864.1:p.Ile32769Met
XM_024453097.1:c.95649A>G (TTN) XP_024308865.1:p.Ile31883Met
XM_024453098.1:c.95568A>G (TTN) XP_024308866.1:p.Ile31856Met
XM_024453099.1:c.77331A>G (TTN) XP_024308867.1:p.Ile25777Met
XM_024453100.1:c.67185A>G (TTN) XP_024308868.1:p.Ile22395Met