Canonical Allele Identifier: CA349483610

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591119G>T , CM000664.2:g.178591119G>T GRCh38
NC_000002.11:g.179455846G>T , CM000664.1:g.179455846G>T GRCh37
NC_000002.10:g.179164092G>T NCBI36
NG_011618.3:g.244684C>A , LRG_391:g.244684C>A
NG_051363.1:g.73293G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52902C>A (TTN) ENSP00000343764.6:p.Ser17634Arg
ENST00000342175.11:c.33987C>A (TTN) ENSP00000340554.6:p.Ser11329Arg
ENST00000359218.10:c.33786C>A (TTN) ENSP00000352154.5:p.Ser11262Arg
ENST00000342175.10:c.33987C>A (TTN) ENSP00000340554.6:p.Ser11329Arg
ENST00000342992.10:c.52902C>A (TTN) ENSP00000343764.6:p.Ser17634Arg
ENST00000359218.9:c.33786C>A (TTN) ENSP00000352154.5:p.Ser11262Arg
ENST00000460472.6:c.33411C>A (TTN) ENSP00000434586.1:p.Ser11137Arg
ENST00000589042.5:c.60606C>A (TTN) MANE Select ENSP00000467141.1:p.Ser20202Arg
ENST00000591111.5:c.55683C>A (TTN) ENSP00000465570.1:p.Ser18561Arg
ENST00000615779.4:c.55683C>A (TTN) ENSP00000483597.1:p.Ser18561Arg
NM_001256850.1:c.55683C>A (TTN) NP_001243779.1:p.Ser18561Arg
NM_001267550.2:c.60606C>A (TTN) MANE Select NP_001254479.2:p.Ser20202Arg
NM_003319.4:c.33411C>A (TTN) NP_003310.4:p.Ser11137Arg
NM_133378.4:c.52902C>A (TTN) NP_596869.4:p.Ser17634Arg
NM_133432.3:c.33786C>A (TTN) NP_597676.3:p.Ser11262Arg
NM_133437.4:c.33987C>A (TTN) NP_597681.4:p.Ser11329Arg
NR_038271.1:n.597-6477G>T (TTN-AS1)
NR_038272.1:n.3189-20G>T (TTN-AS1)
XM_011511729.1:c.59703C>A (TTN) XP_011510031.1:p.Ser19901Arg
XM_011511730.1:c.33597C>A (TTN) XP_011510032.1:p.Ser11199Arg
XM_011511731.1:c.33456C>A (TTN) XP_011510033.1:p.Ser11152Arg
XM_017004819.1:c.59499C>A (TTN) XP_016860308.1:p.Ser19833Arg
XM_017004820.1:c.54897C>A (TTN) XP_016860309.1:p.Ser18299Arg
XM_017004821.1:c.54894C>A (TTN) XP_016860310.1:p.Ser18298Arg
XM_017004822.1:c.51936C>A (TTN) XP_016860311.1:p.Ser17312Arg
XM_017004823.1:c.33552C>A (TTN) XP_016860312.1:p.Ser11184Arg
XM_024453094.1:c.55047C>A (TTN) XP_024308862.1:p.Ser18349Arg
XM_024453095.1:c.55044C>A (TTN) XP_024308863.1:p.Ser18348Arg
XM_024453096.1:c.54477C>A (TTN) XP_024308864.1:p.Ser18159Arg
XM_024453097.1:c.51819C>A (TTN) XP_024308865.1:p.Ser17273Arg
XM_024453098.1:c.51738C>A (TTN) XP_024308866.1:p.Ser17246Arg
XM_024453099.1:c.33501C>A (TTN) XP_024308867.1:p.Ser11167Arg
XM_024453100.1:c.23355C>A (TTN) XP_024308868.1:p.Ser7785Arg