Canonical Allele Identifier: CA349411789

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532204C>G , CM000664.2:g.178532204C>G GRCh38
NC_000002.11:g.179396931C>G , CM000664.1:g.179396931C>G GRCh37
NC_000002.10:g.179105177C>G NCBI36
NG_011618.3:g.303599G>C , LRG_391:g.303599G>C
NG_051363.1:g.14378C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96707G>C (TTN) ENSP00000343764.6:p.Arg32236Thr
ENST00000342175.11:c.77792G>C (TTN) ENSP00000340554.6:p.Arg25931Thr
ENST00000359218.10:c.77591G>C (TTN) ENSP00000352154.5:p.Arg25864Thr
ENST00000342175.10:c.77792G>C (TTN) ENSP00000340554.6:p.Arg25931Thr
ENST00000342992.10:c.96707G>C (TTN) ENSP00000343764.6:p.Arg32236Thr
ENST00000359218.9:c.77591G>C (TTN) ENSP00000352154.5:p.Arg25864Thr
ENST00000460472.6:c.77216G>C (TTN) ENSP00000434586.1:p.Arg25739Thr
ENST00000589042.5:c.104411G>C (TTN) MANE Select ENSP00000467141.1:p.Arg34804Thr
ENST00000591111.5:c.99488G>C (TTN) ENSP00000465570.1:p.Arg33163Thr
ENST00000615779.4:c.99488G>C (TTN) ENSP00000483597.1:p.Arg33163Thr
NM_001256850.1:c.99488G>C (TTN) NP_001243779.1:p.Arg33163Thr
NM_001267550.2:c.104411G>C (TTN) MANE Select NP_001254479.2:p.Arg34804Thr
NM_003319.4:c.77216G>C (TTN) NP_003310.4:p.Arg25739Thr
NM_133378.4:c.96707G>C (TTN) NP_596869.4:p.Arg32236Thr
NM_133432.3:c.77591G>C (TTN) NP_597676.3:p.Arg25864Thr
NM_133437.4:c.77792G>C (TTN) NP_597681.4:p.Arg25931Thr
NR_038271.1:n.446+8568C>G (TTN-AS1)
NR_038272.1:n.220-3528C>G (TTN-AS1)
XM_011511729.1:c.103508G>C (TTN) XP_011510031.1:p.Arg34503Thr
XM_011511730.1:c.77402G>C (TTN) XP_011510032.1:p.Arg25801Thr
XM_011511731.1:c.77261G>C (TTN) XP_011510033.1:p.Arg25754Thr
XM_017004819.1:c.103304G>C (TTN) XP_016860308.1:p.Arg34435Thr
XM_017004820.1:c.98702G>C (TTN) XP_016860309.1:p.Arg32901Thr
XM_017004821.1:c.98699G>C (TTN) XP_016860310.1:p.Arg32900Thr
XM_017004822.1:c.95741G>C (TTN) XP_016860311.1:p.Arg31914Thr
XM_017004823.1:c.77357G>C (TTN) XP_016860312.1:p.Arg25786Thr
XM_024453094.1:c.98852G>C (TTN) XP_024308862.1:p.Arg32951Thr
XM_024453095.1:c.98849G>C (TTN) XP_024308863.1:p.Arg32950Thr
XM_024453096.1:c.98282G>C (TTN) XP_024308864.1:p.Arg32761Thr
XM_024453097.1:c.95624G>C (TTN) XP_024308865.1:p.Arg31875Thr
XM_024453098.1:c.95543G>C (TTN) XP_024308866.1:p.Arg31848Thr
XM_024453099.1:c.77306G>C (TTN) XP_024308867.1:p.Arg25769Thr
XM_024453100.1:c.67160G>C (TTN) XP_024308868.1:p.Arg22387Thr