Canonical Allele Identifier: CA349455974

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544302T>C , CM000664.2:g.178544302T>C GRCh38
NC_000002.11:g.179409029T>C , CM000664.1:g.179409029T>C GRCh37
NC_000002.10:g.179117275T>C NCBI36
NG_011618.3:g.291501A>G , LRG_391:g.291501A>G
NG_051363.1:g.26476T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88223A>G (TTN) ENSP00000343764.6:p.Lys29408Arg
ENST00000342175.11:c.69308A>G (TTN) ENSP00000340554.6:p.Lys23103Arg
ENST00000359218.10:c.69107A>G (TTN) ENSP00000352154.5:p.Lys23036Arg
ENST00000342175.10:c.69308A>G (TTN) ENSP00000340554.6:p.Lys23103Arg
ENST00000342992.10:c.88223A>G (TTN) ENSP00000343764.6:p.Lys29408Arg
ENST00000359218.9:c.69107A>G (TTN) ENSP00000352154.5:p.Lys23036Arg
ENST00000460472.6:c.68732A>G (TTN) ENSP00000434586.1:p.Lys22911Arg
ENST00000589042.5:c.95927A>G (TTN) MANE Select ENSP00000467141.1:p.Lys31976Arg
ENST00000591111.5:c.91004A>G (TTN) ENSP00000465570.1:p.Lys30335Arg
ENST00000615779.4:c.91004A>G (TTN) ENSP00000483597.1:p.Lys30335Arg
NM_001256850.1:c.91004A>G (TTN) NP_001243779.1:p.Lys30335Arg
NM_001267550.2:c.95927A>G (TTN) MANE Select NP_001254479.2:p.Lys31976Arg
NM_003319.4:c.68732A>G (TTN) NP_003310.4:p.Lys22911Arg
NM_133378.4:c.88223A>G (TTN) NP_596869.4:p.Lys29408Arg
NM_133432.3:c.69107A>G (TTN) NP_597676.3:p.Lys23036Arg
NM_133437.4:c.69308A>G (TTN) NP_597681.4:p.Lys23103Arg
NR_038271.1:n.446+20666T>C (TTN-AS1)
NR_038272.1:n.2043+1941T>C (TTN-AS1)
XM_011511729.1:c.95024A>G (TTN) XP_011510031.1:p.Lys31675Arg
XM_011511730.1:c.68918A>G (TTN) XP_011510032.1:p.Lys22973Arg
XM_011511731.1:c.68777A>G (TTN) XP_011510033.1:p.Lys22926Arg
XM_017004819.1:c.94820A>G (TTN) XP_016860308.1:p.Lys31607Arg
XM_017004820.1:c.90218A>G (TTN) XP_016860309.1:p.Lys30073Arg
XM_017004821.1:c.90215A>G (TTN) XP_016860310.1:p.Lys30072Arg
XM_017004822.1:c.87257A>G (TTN) XP_016860311.1:p.Lys29086Arg
XM_017004823.1:c.68873A>G (TTN) XP_016860312.1:p.Lys22958Arg
XM_024453094.1:c.90368A>G (TTN) XP_024308862.1:p.Lys30123Arg
XM_024453095.1:c.90365A>G (TTN) XP_024308863.1:p.Lys30122Arg
XM_024453096.1:c.89798A>G (TTN) XP_024308864.1:p.Lys29933Arg
XM_024453097.1:c.87140A>G (TTN) XP_024308865.1:p.Lys29047Arg
XM_024453098.1:c.87059A>G (TTN) XP_024308866.1:p.Lys29020Arg
XM_024453099.1:c.68822A>G (TTN) XP_024308867.1:p.Lys22941Arg
XM_024453100.1:c.58676A>G (TTN) XP_024308868.1:p.Lys19559Arg