Canonical Allele Identifier: CA349411820

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96694A>T (TTN) ENSP00000343764.6:p.Arg32232Ter
ENST00000342175.11:c.77779A>T (TTN) ENSP00000340554.6:p.Arg25927Ter
ENST00000359218.10:c.77578A>T (TTN) ENSP00000352154.5:p.Arg25860Ter
ENST00000342175.10:c.77779A>T (TTN) ENSP00000340554.6:p.Arg25927Ter
ENST00000342992.10:c.96694A>T (TTN) ENSP00000343764.6:p.Arg32232Ter
ENST00000359218.9:c.77578A>T (TTN) ENSP00000352154.5:p.Arg25860Ter
ENST00000460472.6:c.77203A>T (TTN) ENSP00000434586.1:p.Arg25735Ter
ENST00000589042.5:c.104398A>T (TTN) MANE Select ENSP00000467141.1:p.Arg34800Ter
ENST00000591111.5:c.99475A>T (TTN) ENSP00000465570.1:p.Arg33159Ter
ENST00000615779.4:c.99475A>T (TTN) ENSP00000483597.1:p.Arg33159Ter
NM_001256850.1:c.99475A>T (TTN) NP_001243779.1:p.Arg33159Ter
NM_001267550.2:c.104398A>T (TTN) MANE Select NP_001254479.2:p.Arg34800Ter
NM_003319.4:c.77203A>T (TTN) NP_003310.4:p.Arg25735Ter
NM_133378.4:c.96694A>T (TTN) NP_596869.4:p.Arg32232Ter
NM_133432.3:c.77578A>T (TTN) NP_597676.3:p.Arg25860Ter
NM_133437.4:c.77779A>T (TTN) NP_597681.4:p.Arg25927Ter
NR_038271.1:n.446+8581T>A (TTN-AS1)
NR_038272.1:n.220-3515T>A (TTN-AS1)
XM_011511729.1:c.103495A>T (TTN) XP_011510031.1:p.Arg34499Ter
XM_011511730.1:c.77389A>T (TTN) XP_011510032.1:p.Arg25797Ter
XM_011511731.1:c.77248A>T (TTN) XP_011510033.1:p.Arg25750Ter
XM_017004819.1:c.103291A>T (TTN) XP_016860308.1:p.Arg34431Ter
XM_017004820.1:c.98689A>T (TTN) XP_016860309.1:p.Arg32897Ter
XM_017004821.1:c.98686A>T (TTN) XP_016860310.1:p.Arg32896Ter
XM_017004822.1:c.95728A>T (TTN) XP_016860311.1:p.Arg31910Ter
XM_017004823.1:c.77344A>T (TTN) XP_016860312.1:p.Arg25782Ter
XM_024453094.1:c.98839A>T (TTN) XP_024308862.1:p.Arg32947Ter
XM_024453095.1:c.98836A>T (TTN) XP_024308863.1:p.Arg32946Ter
XM_024453096.1:c.98269A>T (TTN) XP_024308864.1:p.Arg32757Ter
XM_024453097.1:c.95611A>T (TTN) XP_024308865.1:p.Arg31871Ter
XM_024453098.1:c.95530A>T (TTN) XP_024308866.1:p.Arg31844Ter
XM_024453099.1:c.77293A>T (TTN) XP_024308867.1:p.Arg25765Ter
XM_024453100.1:c.67147A>T (TTN) XP_024308868.1:p.Arg22383Ter