Canonical Allele Identifier: CA349411818

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532216C>G , CM000664.2:g.178532216C>G GRCh38
NC_000002.11:g.179396943C>G , CM000664.1:g.179396943C>G GRCh37
NC_000002.10:g.179105189C>G NCBI36
NG_011618.3:g.303587G>C , LRG_391:g.303587G>C
NG_051363.1:g.14390C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96695G>C (TTN) ENSP00000343764.6:p.Arg32232Thr
ENST00000342175.11:c.77780G>C (TTN) ENSP00000340554.6:p.Arg25927Thr
ENST00000359218.10:c.77579G>C (TTN) ENSP00000352154.5:p.Arg25860Thr
ENST00000342175.10:c.77780G>C (TTN) ENSP00000340554.6:p.Arg25927Thr
ENST00000342992.10:c.96695G>C (TTN) ENSP00000343764.6:p.Arg32232Thr
ENST00000359218.9:c.77579G>C (TTN) ENSP00000352154.5:p.Arg25860Thr
ENST00000460472.6:c.77204G>C (TTN) ENSP00000434586.1:p.Arg25735Thr
ENST00000589042.5:c.104399G>C (TTN) MANE Select ENSP00000467141.1:p.Arg34800Thr
ENST00000591111.5:c.99476G>C (TTN) ENSP00000465570.1:p.Arg33159Thr
ENST00000615779.4:c.99476G>C (TTN) ENSP00000483597.1:p.Arg33159Thr
NM_001256850.1:c.99476G>C (TTN) NP_001243779.1:p.Arg33159Thr
NM_001267550.2:c.104399G>C (TTN) MANE Select NP_001254479.2:p.Arg34800Thr
NM_003319.4:c.77204G>C (TTN) NP_003310.4:p.Arg25735Thr
NM_133378.4:c.96695G>C (TTN) NP_596869.4:p.Arg32232Thr
NM_133432.3:c.77579G>C (TTN) NP_597676.3:p.Arg25860Thr
NM_133437.4:c.77780G>C (TTN) NP_597681.4:p.Arg25927Thr
NR_038271.1:n.446+8580C>G (TTN-AS1)
NR_038272.1:n.220-3516C>G (TTN-AS1)
XM_011511729.1:c.103496G>C (TTN) XP_011510031.1:p.Arg34499Thr
XM_011511730.1:c.77390G>C (TTN) XP_011510032.1:p.Arg25797Thr
XM_011511731.1:c.77249G>C (TTN) XP_011510033.1:p.Arg25750Thr
XM_017004819.1:c.103292G>C (TTN) XP_016860308.1:p.Arg34431Thr
XM_017004820.1:c.98690G>C (TTN) XP_016860309.1:p.Arg32897Thr
XM_017004821.1:c.98687G>C (TTN) XP_016860310.1:p.Arg32896Thr
XM_017004822.1:c.95729G>C (TTN) XP_016860311.1:p.Arg31910Thr
XM_017004823.1:c.77345G>C (TTN) XP_016860312.1:p.Arg25782Thr
XM_024453094.1:c.98840G>C (TTN) XP_024308862.1:p.Arg32947Thr
XM_024453095.1:c.98837G>C (TTN) XP_024308863.1:p.Arg32946Thr
XM_024453096.1:c.98270G>C (TTN) XP_024308864.1:p.Arg32757Thr
XM_024453097.1:c.95612G>C (TTN) XP_024308865.1:p.Arg31871Thr
XM_024453098.1:c.95531G>C (TTN) XP_024308866.1:p.Arg31844Thr
XM_024453099.1:c.77294G>C (TTN) XP_024308867.1:p.Arg25765Thr
XM_024453100.1:c.67148G>C (TTN) XP_024308868.1:p.Arg22383Thr