Canonical Allele Identifier: CA349423575

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579677T>C , CM000664.2:g.178579677T>C GRCh38
NC_000002.11:g.179444404T>C , CM000664.1:g.179444404T>C GRCh37
NC_000002.10:g.179152650T>C NCBI36
NG_011618.3:g.256126A>G , LRG_391:g.256126A>G
NG_051363.1:g.61851T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.59816A>G (TTN) ENSP00000343764.6:p.Gln19939Arg
ENST00000342175.11:c.40901A>G (TTN) ENSP00000340554.6:p.Gln13634Arg
ENST00000359218.10:c.40700A>G (TTN) ENSP00000352154.5:p.Gln13567Arg
ENST00000342175.10:c.40901A>G (TTN) ENSP00000340554.6:p.Gln13634Arg
ENST00000342992.10:c.59816A>G (TTN) ENSP00000343764.6:p.Gln19939Arg
ENST00000359218.9:c.40700A>G (TTN) ENSP00000352154.5:p.Gln13567Arg
ENST00000460472.6:c.40325A>G (TTN) ENSP00000434586.1:p.Gln13442Arg
ENST00000589042.5:c.67520A>G (TTN) MANE Select ENSP00000467141.1:p.Gln22507Arg
ENST00000591111.5:c.62597A>G (TTN) ENSP00000465570.1:p.Gln20866Arg
ENST00000615779.4:c.62597A>G (TTN) ENSP00000483597.1:p.Gln20866Arg
NM_001256850.1:c.62597A>G (TTN) NP_001243779.1:p.Gln20866Arg
NM_001267550.2:c.67520A>G (TTN) MANE Select NP_001254479.2:p.Gln22507Arg
NM_003319.4:c.40325A>G (TTN) NP_003310.4:p.Gln13442Arg
NM_133378.4:c.59816A>G (TTN) NP_596869.4:p.Gln19939Arg
NM_133432.3:c.40700A>G (TTN) NP_597676.3:p.Gln13567Arg
NM_133437.4:c.40901A>G (TTN) NP_597681.4:p.Gln13634Arg
NR_038271.1:n.596+8228T>C (TTN-AS1)
NR_038272.1:n.2044-2895T>C (TTN-AS1)
XM_011511729.1:c.66617A>G (TTN) XP_011510031.1:p.Gln22206Arg
XM_011511730.1:c.40511A>G (TTN) XP_011510032.1:p.Gln13504Arg
XM_011511731.1:c.40370A>G (TTN) XP_011510033.1:p.Gln13457Arg
XM_017004819.1:c.66413A>G (TTN) XP_016860308.1:p.Gln22138Arg
XM_017004820.1:c.61811A>G (TTN) XP_016860309.1:p.Gln20604Arg
XM_017004821.1:c.61808A>G (TTN) XP_016860310.1:p.Gln20603Arg
XM_017004822.1:c.58850A>G (TTN) XP_016860311.1:p.Gln19617Arg
XM_017004823.1:c.40466A>G (TTN) XP_016860312.1:p.Gln13489Arg
XM_024453094.1:c.61961A>G (TTN) XP_024308862.1:p.Gln20654Arg
XM_024453095.1:c.61958A>G (TTN) XP_024308863.1:p.Gln20653Arg
XM_024453096.1:c.61391A>G (TTN) XP_024308864.1:p.Gln20464Arg
XM_024453097.1:c.58733A>G (TTN) XP_024308865.1:p.Gln19578Arg
XM_024453098.1:c.58652A>G (TTN) XP_024308866.1:p.Gln19551Arg
XM_024453099.1:c.40415A>G (TTN) XP_024308867.1:p.Gln13472Arg
XM_024453100.1:c.30269A>G (TTN) XP_024308868.1:p.Gln10090Arg