Canonical Allele Identifier: CA349600976

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567308T>C , CM000664.2:g.178567308T>C GRCh38
NC_000002.11:g.179432035T>C , CM000664.1:g.179432035T>C GRCh37
NC_000002.10:g.179140281T>C NCBI36
NG_011618.3:g.268495A>G , LRG_391:g.268495A>G
NG_051363.1:g.49482T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.71120A>G (TTN) ENSP00000343764.6:p.Lys23707Arg
ENST00000342175.11:c.52205A>G (TTN) ENSP00000340554.6:p.Lys17402Arg
ENST00000359218.10:c.52004A>G (TTN) ENSP00000352154.5:p.Lys17335Arg
ENST00000342175.10:c.52205A>G (TTN) ENSP00000340554.6:p.Lys17402Arg
ENST00000342992.10:c.71120A>G (TTN) ENSP00000343764.6:p.Lys23707Arg
ENST00000359218.9:c.52004A>G (TTN) ENSP00000352154.5:p.Lys17335Arg
ENST00000460472.6:c.51629A>G (TTN) ENSP00000434586.1:p.Lys17210Arg
ENST00000589042.5:c.78824A>G (TTN) MANE Select ENSP00000467141.1:p.Lys26275Arg
ENST00000591111.5:c.73901A>G (TTN) ENSP00000465570.1:p.Lys24634Arg
ENST00000615779.4:c.73901A>G (TTN) ENSP00000483597.1:p.Lys24634Arg
NM_001256850.1:c.73901A>G (TTN) NP_001243779.1:p.Lys24634Arg
NM_001267550.2:c.78824A>G (TTN) MANE Select NP_001254479.2:p.Lys26275Arg
NM_003319.4:c.51629A>G (TTN) NP_003310.4:p.Lys17210Arg
NM_133378.4:c.71120A>G (TTN) NP_596869.4:p.Lys23707Arg
NM_133432.3:c.52004A>G (TTN) NP_597676.3:p.Lys17335Arg
NM_133437.4:c.52205A>G (TTN) NP_597681.4:p.Lys17402Arg
NR_038271.1:n.447-3992T>C (TTN-AS1)
NR_038272.1:n.2044-15264T>C (TTN-AS1)
XM_011511729.1:c.77921A>G (TTN) XP_011510031.1:p.Lys25974Arg
XM_011511730.1:c.51815A>G (TTN) XP_011510032.1:p.Lys17272Arg
XM_011511731.1:c.51674A>G (TTN) XP_011510033.1:p.Lys17225Arg
XM_017004819.1:c.77717A>G (TTN) XP_016860308.1:p.Lys25906Arg
XM_017004820.1:c.73115A>G (TTN) XP_016860309.1:p.Lys24372Arg
XM_017004821.1:c.73112A>G (TTN) XP_016860310.1:p.Lys24371Arg
XM_017004822.1:c.70154A>G (TTN) XP_016860311.1:p.Lys23385Arg
XM_017004823.1:c.51770A>G (TTN) XP_016860312.1:p.Lys17257Arg
XM_024453094.1:c.73265A>G (TTN) XP_024308862.1:p.Lys24422Arg
XM_024453095.1:c.73262A>G (TTN) XP_024308863.1:p.Lys24421Arg
XM_024453096.1:c.72695A>G (TTN) XP_024308864.1:p.Lys24232Arg
XM_024453097.1:c.70037A>G (TTN) XP_024308865.1:p.Lys23346Arg
XM_024453098.1:c.69956A>G (TTN) XP_024308866.1:p.Lys23319Arg
XM_024453099.1:c.51719A>G (TTN) XP_024308867.1:p.Lys17240Arg
XM_024453100.1:c.41573A>G (TTN) XP_024308868.1:p.Lys13858Arg