Canonical Allele Identifier: CA349411491

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532101T>A , CM000664.2:g.178532101T>A GRCh38
NC_000002.11:g.179396828T>A , CM000664.1:g.179396828T>A GRCh37
NC_000002.10:g.179105074T>A NCBI36
NG_011618.3:g.303702A>T , LRG_391:g.303702A>T
NG_051363.1:g.14275T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.96810A>T (TTN) ENSP00000343764.6:p.Arg32270Ser
ENST00000342175.11:c.77895A>T (TTN) ENSP00000340554.6:p.Arg25965Ser
ENST00000359218.10:c.77694A>T (TTN) ENSP00000352154.5:p.Arg25898Ser
ENST00000342175.10:c.77895A>T (TTN) ENSP00000340554.6:p.Arg25965Ser
ENST00000342992.10:c.96810A>T (TTN) ENSP00000343764.6:p.Arg32270Ser
ENST00000359218.9:c.77694A>T (TTN) ENSP00000352154.5:p.Arg25898Ser
ENST00000460472.6:c.77319A>T (TTN) ENSP00000434586.1:p.Arg25773Ser
ENST00000589042.5:c.104514A>T (TTN) MANE Select ENSP00000467141.1:p.Arg34838Ser
ENST00000591111.5:c.99591A>T (TTN) ENSP00000465570.1:p.Arg33197Ser
ENST00000615779.4:c.99591A>T (TTN) ENSP00000483597.1:p.Arg33197Ser
NM_001256850.1:c.99591A>T (TTN) NP_001243779.1:p.Arg33197Ser
NM_001267550.2:c.104514A>T (TTN) MANE Select NP_001254479.2:p.Arg34838Ser
NM_003319.4:c.77319A>T (TTN) NP_003310.4:p.Arg25773Ser
NM_133378.4:c.96810A>T (TTN) NP_596869.4:p.Arg32270Ser
NM_133432.3:c.77694A>T (TTN) NP_597676.3:p.Arg25898Ser
NM_133437.4:c.77895A>T (TTN) NP_597681.4:p.Arg25965Ser
NR_038271.1:n.446+8465T>A (TTN-AS1)
NR_038272.1:n.220-3631T>A (TTN-AS1)
XM_011511729.1:c.103611A>T (TTN) XP_011510031.1:p.Arg34537Ser
XM_011511730.1:c.77505A>T (TTN) XP_011510032.1:p.Arg25835Ser
XM_011511731.1:c.77364A>T (TTN) XP_011510033.1:p.Arg25788Ser
XM_017004819.1:c.103407A>T (TTN) XP_016860308.1:p.Arg34469Ser
XM_017004820.1:c.98805A>T (TTN) XP_016860309.1:p.Arg32935Ser
XM_017004821.1:c.98802A>T (TTN) XP_016860310.1:p.Arg32934Ser
XM_017004822.1:c.95844A>T (TTN) XP_016860311.1:p.Arg31948Ser
XM_017004823.1:c.77460A>T (TTN) XP_016860312.1:p.Arg25820Ser
XM_024453094.1:c.98955A>T (TTN) XP_024308862.1:p.Arg32985Ser
XM_024453095.1:c.98952A>T (TTN) XP_024308863.1:p.Arg32984Ser
XM_024453096.1:c.98385A>T (TTN) XP_024308864.1:p.Arg32795Ser
XM_024453097.1:c.95727A>T (TTN) XP_024308865.1:p.Arg31909Ser
XM_024453098.1:c.95646A>T (TTN) XP_024308866.1:p.Arg31882Ser
XM_024453099.1:c.77409A>T (TTN) XP_024308867.1:p.Arg25803Ser
XM_024453100.1:c.67263A>T (TTN) XP_024308868.1:p.Arg22421Ser