Canonical Allele Identifier: CA349411821

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532217T>C , CM000664.2:g.178532217T>C GRCh38
NC_000002.11:g.179396944T>C , CM000664.1:g.179396944T>C GRCh37
NC_000002.10:g.179105190T>C NCBI36
NG_011618.3:g.303586A>G , LRG_391:g.303586A>G
NG_051363.1:g.14391T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96694A>G (TTN) ENSP00000343764.6:p.Arg32232Gly
ENST00000342175.11:c.77779A>G (TTN) ENSP00000340554.6:p.Arg25927Gly
ENST00000359218.10:c.77578A>G (TTN) ENSP00000352154.5:p.Arg25860Gly
ENST00000342175.10:c.77779A>G (TTN) ENSP00000340554.6:p.Arg25927Gly
ENST00000342992.10:c.96694A>G (TTN) ENSP00000343764.6:p.Arg32232Gly
ENST00000359218.9:c.77578A>G (TTN) ENSP00000352154.5:p.Arg25860Gly
ENST00000460472.6:c.77203A>G (TTN) ENSP00000434586.1:p.Arg25735Gly
ENST00000589042.5:c.104398A>G (TTN) MANE Select ENSP00000467141.1:p.Arg34800Gly
ENST00000591111.5:c.99475A>G (TTN) ENSP00000465570.1:p.Arg33159Gly
ENST00000615779.4:c.99475A>G (TTN) ENSP00000483597.1:p.Arg33159Gly
NM_001256850.1:c.99475A>G (TTN) NP_001243779.1:p.Arg33159Gly
NM_001267550.2:c.104398A>G (TTN) MANE Select NP_001254479.2:p.Arg34800Gly
NM_003319.4:c.77203A>G (TTN) NP_003310.4:p.Arg25735Gly
NM_133378.4:c.96694A>G (TTN) NP_596869.4:p.Arg32232Gly
NM_133432.3:c.77578A>G (TTN) NP_597676.3:p.Arg25860Gly
NM_133437.4:c.77779A>G (TTN) NP_597681.4:p.Arg25927Gly
NR_038271.1:n.446+8581T>C (TTN-AS1)
NR_038272.1:n.220-3515T>C (TTN-AS1)
XM_011511729.1:c.103495A>G (TTN) XP_011510031.1:p.Arg34499Gly
XM_011511730.1:c.77389A>G (TTN) XP_011510032.1:p.Arg25797Gly
XM_011511731.1:c.77248A>G (TTN) XP_011510033.1:p.Arg25750Gly
XM_017004819.1:c.103291A>G (TTN) XP_016860308.1:p.Arg34431Gly
XM_017004820.1:c.98689A>G (TTN) XP_016860309.1:p.Arg32897Gly
XM_017004821.1:c.98686A>G (TTN) XP_016860310.1:p.Arg32896Gly
XM_017004822.1:c.95728A>G (TTN) XP_016860311.1:p.Arg31910Gly
XM_017004823.1:c.77344A>G (TTN) XP_016860312.1:p.Arg25782Gly
XM_024453094.1:c.98839A>G (TTN) XP_024308862.1:p.Arg32947Gly
XM_024453095.1:c.98836A>G (TTN) XP_024308863.1:p.Arg32946Gly
XM_024453096.1:c.98269A>G (TTN) XP_024308864.1:p.Arg32757Gly
XM_024453097.1:c.95611A>G (TTN) XP_024308865.1:p.Arg31871Gly
XM_024453098.1:c.95530A>G (TTN) XP_024308866.1:p.Arg31844Gly
XM_024453099.1:c.77293A>G (TTN) XP_024308867.1:p.Arg25765Gly
XM_024453100.1:c.67147A>G (TTN) XP_024308868.1:p.Arg22383Gly