Canonical Allele Identifier: CA349407022

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530509T>C , CM000664.2:g.178530509T>C GRCh38
NC_000002.11:g.179395236T>C , CM000664.1:g.179395236T>C GRCh37
NC_000002.10:g.179103482T>C NCBI36
NG_011618.3:g.305294A>G , LRG_391:g.305294A>G
NG_051363.1:g.12683T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98402A>G (TTN) ENSP00000343764.6:p.Lys32801Arg
ENST00000342175.11:c.79487A>G (TTN) ENSP00000340554.6:p.Lys26496Arg
ENST00000359218.10:c.79286A>G (TTN) ENSP00000352154.5:p.Lys26429Arg
ENST00000342175.10:c.79487A>G (TTN) ENSP00000340554.6:p.Lys26496Arg
ENST00000342992.10:c.98402A>G (TTN) ENSP00000343764.6:p.Lys32801Arg
ENST00000359218.9:c.79286A>G (TTN) ENSP00000352154.5:p.Lys26429Arg
ENST00000460472.6:c.78911A>G (TTN) ENSP00000434586.1:p.Lys26304Arg
ENST00000589042.5:c.106106A>G (TTN) MANE Select ENSP00000467141.1:p.Lys35369Arg
ENST00000591111.5:c.101183A>G (TTN) ENSP00000465570.1:p.Lys33728Arg
ENST00000615779.4:c.101183A>G (TTN) ENSP00000483597.1:p.Lys33728Arg
NM_001256850.1:c.101183A>G (TTN) NP_001243779.1:p.Lys33728Arg
NM_001267550.2:c.106106A>G (TTN) MANE Select NP_001254479.2:p.Lys35369Arg
NM_003319.4:c.78911A>G (TTN) NP_003310.4:p.Lys26304Arg
NM_133378.4:c.98402A>G (TTN) NP_596869.4:p.Lys32801Arg
NM_133432.3:c.79286A>G (TTN) NP_597676.3:p.Lys26429Arg
NM_133437.4:c.79487A>G (TTN) NP_597681.4:p.Lys26496Arg
NR_038271.1:n.446+6873T>C (TTN-AS1)
NR_038272.1:n.220-5223T>C (TTN-AS1)
XM_011511729.1:c.105203A>G (TTN) XP_011510031.1:p.Lys35068Arg
XM_011511730.1:c.79097A>G (TTN) XP_011510032.1:p.Lys26366Arg
XM_011511731.1:c.78956A>G (TTN) XP_011510033.1:p.Lys26319Arg
XM_017004819.1:c.104999A>G (TTN) XP_016860308.1:p.Lys35000Arg
XM_017004820.1:c.100397A>G (TTN) XP_016860309.1:p.Lys33466Arg
XM_017004821.1:c.100394A>G (TTN) XP_016860310.1:p.Lys33465Arg
XM_017004822.1:c.97436A>G (TTN) XP_016860311.1:p.Lys32479Arg
XM_017004823.1:c.79052A>G (TTN) XP_016860312.1:p.Lys26351Arg
XM_024453094.1:c.100547A>G (TTN) XP_024308862.1:p.Lys33516Arg
XM_024453095.1:c.100544A>G (TTN) XP_024308863.1:p.Lys33515Arg
XM_024453096.1:c.99977A>G (TTN) XP_024308864.1:p.Lys33326Arg
XM_024453097.1:c.97319A>G (TTN) XP_024308865.1:p.Lys32440Arg
XM_024453098.1:c.97238A>G (TTN) XP_024308866.1:p.Lys32413Arg
XM_024453099.1:c.79001A>G (TTN) XP_024308867.1:p.Lys26334Arg
XM_024453100.1:c.68855A>G (TTN) XP_024308868.1:p.Lys22952Arg