Canonical Allele Identifier: CA349406843

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530452T>C , CM000664.2:g.178530452T>C GRCh38
NC_000002.11:g.179395179T>C , CM000664.1:g.179395179T>C GRCh37
NC_000002.10:g.179103425T>C NCBI36
NG_011618.3:g.305351A>G , LRG_391:g.305351A>G
NG_051363.1:g.12626T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98459A>G (TTN) ENSP00000343764.6:p.Lys32820Arg
ENST00000342175.11:c.79544A>G (TTN) ENSP00000340554.6:p.Lys26515Arg
ENST00000359218.10:c.79343A>G (TTN) ENSP00000352154.5:p.Lys26448Arg
ENST00000342175.10:c.79544A>G (TTN) ENSP00000340554.6:p.Lys26515Arg
ENST00000342992.10:c.98459A>G (TTN) ENSP00000343764.6:p.Lys32820Arg
ENST00000359218.9:c.79343A>G (TTN) ENSP00000352154.5:p.Lys26448Arg
ENST00000460472.6:c.78968A>G (TTN) ENSP00000434586.1:p.Lys26323Arg
ENST00000589042.5:c.106163A>G (TTN) MANE Select ENSP00000467141.1:p.Lys35388Arg
ENST00000591111.5:c.101240A>G (TTN) ENSP00000465570.1:p.Lys33747Arg
ENST00000615779.4:c.101240A>G (TTN) ENSP00000483597.1:p.Lys33747Arg
NM_001256850.1:c.101240A>G (TTN) NP_001243779.1:p.Lys33747Arg
NM_001267550.2:c.106163A>G (TTN) MANE Select NP_001254479.2:p.Lys35388Arg
NM_003319.4:c.78968A>G (TTN) NP_003310.4:p.Lys26323Arg
NM_133378.4:c.98459A>G (TTN) NP_596869.4:p.Lys32820Arg
NM_133432.3:c.79343A>G (TTN) NP_597676.3:p.Lys26448Arg
NM_133437.4:c.79544A>G (TTN) NP_597681.4:p.Lys26515Arg
NR_038271.1:n.446+6816T>C (TTN-AS1)
NR_038272.1:n.220-5280T>C (TTN-AS1)
XM_011511729.1:c.105260A>G (TTN) XP_011510031.1:p.Lys35087Arg
XM_011511730.1:c.79154A>G (TTN) XP_011510032.1:p.Lys26385Arg
XM_011511731.1:c.79013A>G (TTN) XP_011510033.1:p.Lys26338Arg
XM_017004819.1:c.105056A>G (TTN) XP_016860308.1:p.Lys35019Arg
XM_017004820.1:c.100454A>G (TTN) XP_016860309.1:p.Lys33485Arg
XM_017004821.1:c.100451A>G (TTN) XP_016860310.1:p.Lys33484Arg
XM_017004822.1:c.97493A>G (TTN) XP_016860311.1:p.Lys32498Arg
XM_017004823.1:c.79109A>G (TTN) XP_016860312.1:p.Lys26370Arg
XM_024453094.1:c.100604A>G (TTN) XP_024308862.1:p.Lys33535Arg
XM_024453095.1:c.100601A>G (TTN) XP_024308863.1:p.Lys33534Arg
XM_024453096.1:c.100034A>G (TTN) XP_024308864.1:p.Lys33345Arg
XM_024453097.1:c.97376A>G (TTN) XP_024308865.1:p.Lys32459Arg
XM_024453098.1:c.97295A>G (TTN) XP_024308866.1:p.Lys32432Arg
XM_024453099.1:c.79058A>G (TTN) XP_024308867.1:p.Lys26353Arg
XM_024453100.1:c.68912A>G (TTN) XP_024308868.1:p.Lys22971Arg