Canonical Allele Identifier: CA430236438
Community Standard Title: NM_001267550.2(TTN):c.103830C>T (p.Arg34610=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532785G>A , CM000664.2:g.178532785G>A GRCh38
NC_000002.11:g.179397512G>A , CM000664.1:g.179397512G>A GRCh37
NC_000002.10:g.179105758G>A NCBI36
NG_011618.3:g.303018C>T , LRG_391:g.303018C>T
NG_051363.1:g.14959G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.103830C>T (TTN) MANE Select NP_001254479.2:p.Arg34610=
ENST00000589042.5:c.103830C>T (TTN) MANE Select ENSP00000467141.1:p.Arg34610=
NM_001256850.1:c.98907C>T (TTN) NP_001243779.1:p.Arg32969=
NM_003319.4:c.76635C>T (TTN) NP_003310.4:p.Arg25545=
NM_133378.4:c.96126C>T (TTN) NP_596869.4:p.Arg32042=
NM_133432.3:c.77010C>T (TTN) NP_597676.3:p.Arg25670=
NM_133437.4:c.77211C>T (TTN) NP_597681.4:p.Arg25737=
NR_038271.1:n.446+9149G>A (TTN-AS1)
NR_038272.1:n.220-2947G>A (TTN-AS1)
ENST00000342175.10:c.77211C>T (TTN) ENSP00000340554.6:p.Arg25737=
ENST00000342175.11:c.77211C>T (TTN) ENSP00000340554.6:p.Arg25737=
ENST00000342992.10:c.96126C>T (TTN) ENSP00000343764.6:p.Arg32042=
ENST00000342992.11:c.96126C>T (TTN) ENSP00000343764.6:p.Arg32042=
ENST00000359218.10:c.77010C>T (TTN) ENSP00000352154.5:p.Arg25670=
ENST00000359218.9:c.77010C>T (TTN) ENSP00000352154.5:p.Arg25670=
ENST00000460472.6:c.76635C>T (TTN) ENSP00000434586.1:p.Arg25545=
ENST00000591111.5:c.98907C>T (TTN) ENSP00000465570.1:p.Arg32969=
ENST00000615779.4:c.98907C>T (TTN) ENSP00000483597.1:p.Arg32969=
XM_011511729.1:c.102927C>T (TTN) XP_011510031.1:p.Arg34309=
XM_011511730.1:c.76821C>T (TTN) XP_011510032.1:p.Arg25607=
XM_011511731.1:c.76680C>T (TTN) XP_011510033.1:p.Arg25560=
XM_017004819.1:c.102723C>T (TTN) XP_016860308.1:p.Arg34241=
XM_017004820.1:c.98121C>T (TTN) XP_016860309.1:p.Arg32707=
XM_017004821.1:c.98118C>T (TTN) XP_016860310.1:p.Arg32706=
XM_017004822.1:c.95160C>T (TTN) XP_016860311.1:p.Arg31720=
XM_017004823.1:c.76776C>T (TTN) XP_016860312.1:p.Arg25592=
XM_024453094.1:c.98271C>T (TTN) XP_024308862.1:p.Arg32757=
XM_024453095.1:c.98268C>T (TTN) XP_024308863.1:p.Arg32756=
XM_024453096.1:c.97701C>T (TTN) XP_024308864.1:p.Arg32567=
XM_024453097.1:c.95043C>T (TTN) XP_024308865.1:p.Arg31681=
XM_024453098.1:c.94962C>T (TTN) XP_024308866.1:p.Arg31654=
XM_024453099.1:c.76725C>T (TTN) XP_024308867.1:p.Arg25575=
XM_024453100.1:c.66579C>T (TTN) XP_024308868.1:p.Arg22193=