Canonical Allele Identifier: CA349425385

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178536164T>C , CM000664.2:g.178536164T>C GRCh38
NC_000002.11:g.179400891T>C , CM000664.1:g.179400891T>C GRCh37
NC_000002.10:g.179109137T>C NCBI36
NG_011618.3:g.299639A>G , LRG_391:g.299639A>G
NG_051363.1:g.18338T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92879A>G (TTN) ENSP00000343764.6:p.Lys30960Arg
ENST00000342175.11:c.73964A>G (TTN) ENSP00000340554.6:p.Lys24655Arg
ENST00000359218.10:c.73763A>G (TTN) ENSP00000352154.5:p.Lys24588Arg
ENST00000342175.10:c.73964A>G (TTN) ENSP00000340554.6:p.Lys24655Arg
ENST00000342992.10:c.92879A>G (TTN) ENSP00000343764.6:p.Lys30960Arg
ENST00000359218.9:c.73763A>G (TTN) ENSP00000352154.5:p.Lys24588Arg
ENST00000460472.6:c.73388A>G (TTN) ENSP00000434586.1:p.Lys24463Arg
ENST00000589042.5:c.100583A>G (TTN) MANE Select ENSP00000467141.1:p.Lys33528Arg
ENST00000591111.5:c.95660A>G (TTN) ENSP00000465570.1:p.Lys31887Arg
ENST00000615779.4:c.95660A>G (TTN) ENSP00000483597.1:p.Lys31887Arg
NM_001256850.1:c.95660A>G (TTN) NP_001243779.1:p.Lys31887Arg
NM_001267550.2:c.100583A>G (TTN) MANE Select NP_001254479.2:p.Lys33528Arg
NM_003319.4:c.73388A>G (TTN) NP_003310.4:p.Lys24463Arg
NM_133378.4:c.92879A>G (TTN) NP_596869.4:p.Lys30960Arg
NM_133432.3:c.73763A>G (TTN) NP_597676.3:p.Lys24588Arg
NM_133437.4:c.73964A>G (TTN) NP_597681.4:p.Lys24655Arg
NR_038271.1:n.446+12528T>C (TTN-AS1)
NR_038272.1:n.316+336T>C (TTN-AS1)
XM_011511729.1:c.99680A>G (TTN) XP_011510031.1:p.Lys33227Arg
XM_011511730.1:c.73574A>G (TTN) XP_011510032.1:p.Lys24525Arg
XM_011511731.1:c.73433A>G (TTN) XP_011510033.1:p.Lys24478Arg
XM_017004819.1:c.99476A>G (TTN) XP_016860308.1:p.Lys33159Arg
XM_017004820.1:c.94874A>G (TTN) XP_016860309.1:p.Lys31625Arg
XM_017004821.1:c.94871A>G (TTN) XP_016860310.1:p.Lys31624Arg
XM_017004822.1:c.91913A>G (TTN) XP_016860311.1:p.Lys30638Arg
XM_017004823.1:c.73529A>G (TTN) XP_016860312.1:p.Lys24510Arg
XM_024453094.1:c.95024A>G (TTN) XP_024308862.1:p.Lys31675Arg
XM_024453095.1:c.95021A>G (TTN) XP_024308863.1:p.Lys31674Arg
XM_024453096.1:c.94454A>G (TTN) XP_024308864.1:p.Lys31485Arg
XM_024453097.1:c.91796A>G (TTN) XP_024308865.1:p.Lys30599Arg
XM_024453098.1:c.91715A>G (TTN) XP_024308866.1:p.Lys30572Arg
XM_024453099.1:c.73478A>G (TTN) XP_024308867.1:p.Lys24493Arg
XM_024453100.1:c.63332A>G (TTN) XP_024308868.1:p.Lys21111Arg