Canonical Allele Identifier: CA349436059

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584674G>C , CM000664.2:g.178584674G>C GRCh38
NC_000002.11:g.179449401G>C , CM000664.1:g.179449401G>C GRCh37
NC_000002.10:g.179157647G>C NCBI36
NG_011618.3:g.251129C>G , LRG_391:g.251129C>G
NG_051363.1:g.66848G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57263C>G (TTN) ENSP00000343764.6:p.Pro19088Arg
ENST00000342175.11:c.38348C>G (TTN) ENSP00000340554.6:p.Pro12783Arg
ENST00000359218.10:c.38147C>G (TTN) ENSP00000352154.5:p.Pro12716Arg
ENST00000342175.10:c.38348C>G (TTN) ENSP00000340554.6:p.Pro12783Arg
ENST00000342992.10:c.57263C>G (TTN) ENSP00000343764.6:p.Pro19088Arg
ENST00000359218.9:c.38147C>G (TTN) ENSP00000352154.5:p.Pro12716Arg
ENST00000460472.6:c.37772C>G (TTN) ENSP00000434586.1:p.Pro12591Arg
ENST00000589042.5:c.64967C>G (TTN) MANE Select ENSP00000467141.1:p.Pro21656Arg
ENST00000591111.5:c.60044C>G (TTN) ENSP00000465570.1:p.Pro20015Arg
ENST00000615779.4:c.60044C>G (TTN) ENSP00000483597.1:p.Pro20015Arg
NM_001256850.1:c.60044C>G (TTN) NP_001243779.1:p.Pro20015Arg
NM_001267550.2:c.64967C>G (TTN) MANE Select NP_001254479.2:p.Pro21656Arg
NM_003319.4:c.37772C>G (TTN) NP_003310.4:p.Pro12591Arg
NM_133378.4:c.57263C>G (TTN) NP_596869.4:p.Pro19088Arg
NM_133432.3:c.38147C>G (TTN) NP_597676.3:p.Pro12716Arg
NM_133437.4:c.38348C>G (TTN) NP_597681.4:p.Pro12783Arg
NR_038271.1:n.597-12922G>C (TTN-AS1)
NR_038272.1:n.2869G>C (TTN-AS1)
XM_011511729.1:c.64064C>G (TTN) XP_011510031.1:p.Pro21355Arg
XM_011511730.1:c.37958C>G (TTN) XP_011510032.1:p.Pro12653Arg
XM_011511731.1:c.37817C>G (TTN) XP_011510033.1:p.Pro12606Arg
XM_017004819.1:c.63860C>G (TTN) XP_016860308.1:p.Pro21287Arg
XM_017004820.1:c.59258C>G (TTN) XP_016860309.1:p.Pro19753Arg
XM_017004821.1:c.59255C>G (TTN) XP_016860310.1:p.Pro19752Arg
XM_017004822.1:c.56297C>G (TTN) XP_016860311.1:p.Pro18766Arg
XM_017004823.1:c.37913C>G (TTN) XP_016860312.1:p.Pro12638Arg
XM_024453094.1:c.59408C>G (TTN) XP_024308862.1:p.Pro19803Arg
XM_024453095.1:c.59405C>G (TTN) XP_024308863.1:p.Pro19802Arg
XM_024453096.1:c.58838C>G (TTN) XP_024308864.1:p.Pro19613Arg
XM_024453097.1:c.56180C>G (TTN) XP_024308865.1:p.Pro18727Arg
XM_024453098.1:c.56099C>G (TTN) XP_024308866.1:p.Pro18700Arg
XM_024453099.1:c.37862C>G (TTN) XP_024308867.1:p.Pro12621Arg
XM_024453100.1:c.27716C>G (TTN) XP_024308868.1:p.Pro9239Arg