Canonical Allele Identifier: CA349494160

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178592780C>A , CM000664.2:g.178592780C>A GRCh38
NC_000002.11:g.179457507C>A , CM000664.1:g.179457507C>A GRCh37
NC_000002.10:g.179165753C>A NCBI36
NG_011618.3:g.243023G>T , LRG_391:g.243023G>T
NG_051363.1:g.74954C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51635G>T (TTN) ENSP00000343764.6:p.Arg17212Met
ENST00000342175.11:c.32720G>T (TTN) ENSP00000340554.6:p.Arg10907Met
ENST00000359218.10:c.32519G>T (TTN) ENSP00000352154.5:p.Arg10840Met
ENST00000342175.10:c.32720G>T (TTN) ENSP00000340554.6:p.Arg10907Met
ENST00000342992.10:c.51635G>T (TTN) ENSP00000343764.6:p.Arg17212Met
ENST00000359218.9:c.32519G>T (TTN) ENSP00000352154.5:p.Arg10840Met
ENST00000460472.6:c.32144G>T (TTN) ENSP00000434586.1:p.Arg10715Met
ENST00000589042.5:c.59339G>T (TTN) MANE Select ENSP00000467141.1:p.Arg19780Met
ENST00000591111.5:c.54416G>T (TTN) ENSP00000465570.1:p.Arg18139Met
ENST00000615779.4:c.54416G>T (TTN) ENSP00000483597.1:p.Arg18139Met
NM_001256850.1:c.54416G>T (TTN) NP_001243779.1:p.Arg18139Met
NM_001267550.2:c.59339G>T (TTN) MANE Select NP_001254479.2:p.Arg19780Met
NM_003319.4:c.32144G>T (TTN) NP_003310.4:p.Arg10715Met
NM_133378.4:c.51635G>T (TTN) NP_596869.4:p.Arg17212Met
NM_133432.3:c.32519G>T (TTN) NP_597676.3:p.Arg10840Met
NM_133437.4:c.32720G>T (TTN) NP_597681.4:p.Arg10907Met
NR_038271.1:n.597-4816C>A (TTN-AS1)
NR_038272.1:n.3364+1466C>A (TTN-AS1)
XM_011511729.1:c.58436G>T (TTN) XP_011510031.1:p.Arg19479Met
XM_011511730.1:c.32330G>T (TTN) XP_011510032.1:p.Arg10777Met
XM_011511731.1:c.32189G>T (TTN) XP_011510033.1:p.Arg10730Met
XM_017004819.1:c.58232G>T (TTN) XP_016860308.1:p.Arg19411Met
XM_017004820.1:c.53630G>T (TTN) XP_016860309.1:p.Arg17877Met
XM_017004821.1:c.53627G>T (TTN) XP_016860310.1:p.Arg17876Met
XM_017004822.1:c.50669G>T (TTN) XP_016860311.1:p.Arg16890Met
XM_017004823.1:c.32285G>T (TTN) XP_016860312.1:p.Arg10762Met
XM_024453094.1:c.53780G>T (TTN) XP_024308862.1:p.Arg17927Met
XM_024453095.1:c.53777G>T (TTN) XP_024308863.1:p.Arg17926Met
XM_024453096.1:c.53210G>T (TTN) XP_024308864.1:p.Arg17737Met
XM_024453097.1:c.50552G>T (TTN) XP_024308865.1:p.Arg16851Met
XM_024453098.1:c.50471G>T (TTN) XP_024308866.1:p.Arg16824Met
XM_024453099.1:c.32234G>T (TTN) XP_024308867.1:p.Arg10745Met
XM_024453100.1:c.22088G>T (TTN) XP_024308868.1:p.Arg7363Met