Canonical Allele Identifier: CA349398491

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527100T>G , CM000664.2:g.178527100T>G GRCh38
NC_000002.11:g.179391827T>G , CM000664.1:g.179391827T>G GRCh37
NC_000002.10:g.179100073T>G NCBI36
NG_011618.3:g.308703A>C , LRG_391:g.308703A>C
NG_051363.1:g.9274T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100184A>C (TTN) ENSP00000343764.6:p.Lys33395Thr
ENST00000342175.11:c.81269A>C (TTN) ENSP00000340554.6:p.Lys27090Thr
ENST00000359218.10:c.81068A>C (TTN) ENSP00000352154.5:p.Lys27023Thr
ENST00000342175.10:c.81269A>C (TTN) ENSP00000340554.6:p.Lys27090Thr
ENST00000342992.10:c.100184A>C (TTN) ENSP00000343764.6:p.Lys33395Thr
ENST00000359218.9:c.81068A>C (TTN) ENSP00000352154.5:p.Lys27023Thr
ENST00000460472.6:c.80693A>C (TTN) ENSP00000434586.1:p.Lys26898Thr
ENST00000589042.5:c.107888A>C (TTN) MANE Select ENSP00000467141.1:p.Lys35963Thr
ENST00000591111.5:c.102965A>C (TTN) ENSP00000465570.1:p.Lys34322Thr
ENST00000615779.4:c.102965A>C (TTN) ENSP00000483597.1:p.Lys34322Thr
NM_001256850.1:c.102965A>C (TTN) NP_001243779.1:p.Lys34322Thr
NM_001267550.2:c.107888A>C (TTN) MANE Select NP_001254479.2:p.Lys35963Thr
NM_003319.4:c.80693A>C (TTN) NP_003310.4:p.Lys26898Thr
NM_133378.4:c.100184A>C (TTN) NP_596869.4:p.Lys33395Thr
NM_133432.3:c.81068A>C (TTN) NP_597676.3:p.Lys27023Thr
NM_133437.4:c.81269A>C (TTN) NP_597681.4:p.Lys27090Thr
NR_038271.1:n.446+3464T>G (TTN-AS1)
NR_038272.1:n.219+3464T>G (TTN-AS1)
XM_011511729.1:c.106985A>C (TTN) XP_011510031.1:p.Lys35662Thr
XM_011511730.1:c.80879A>C (TTN) XP_011510032.1:p.Lys26960Thr
XM_011511731.1:c.80738A>C (TTN) XP_011510033.1:p.Lys26913Thr
XM_017004819.1:c.106781A>C (TTN) XP_016860308.1:p.Lys35594Thr
XM_017004820.1:c.102179A>C (TTN) XP_016860309.1:p.Lys34060Thr
XM_017004821.1:c.102176A>C (TTN) XP_016860310.1:p.Lys34059Thr
XM_017004822.1:c.99218A>C (TTN) XP_016860311.1:p.Lys33073Thr
XM_017004823.1:c.80834A>C (TTN) XP_016860312.1:p.Lys26945Thr
XM_024453094.1:c.102329A>C (TTN) XP_024308862.1:p.Lys34110Thr
XM_024453095.1:c.102326A>C (TTN) XP_024308863.1:p.Lys34109Thr
XM_024453096.1:c.101759A>C (TTN) XP_024308864.1:p.Lys33920Thr
XM_024453097.1:c.99101A>C (TTN) XP_024308865.1:p.Lys33034Thr
XM_024453098.1:c.99020A>C (TTN) XP_024308866.1:p.Lys33007Thr
XM_024453099.1:c.80783A>C (TTN) XP_024308867.1:p.Lys26928Thr
XM_024453100.1:c.70637A>C (TTN) XP_024308868.1:p.Lys23546Thr