Canonical Allele Identifier: CA349406744

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530434T>C , CM000664.2:g.178530434T>C GRCh38
NC_000002.11:g.179395161T>C , CM000664.1:g.179395161T>C GRCh37
NC_000002.10:g.179103407T>C NCBI36
NG_011618.3:g.305369A>G , LRG_391:g.305369A>G
NG_051363.1:g.12608T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98477A>G (TTN) ENSP00000343764.6:p.Lys32826Arg
ENST00000342175.11:c.79562A>G (TTN) ENSP00000340554.6:p.Lys26521Arg
ENST00000359218.10:c.79361A>G (TTN) ENSP00000352154.5:p.Lys26454Arg
ENST00000342175.10:c.79562A>G (TTN) ENSP00000340554.6:p.Lys26521Arg
ENST00000342992.10:c.98477A>G (TTN) ENSP00000343764.6:p.Lys32826Arg
ENST00000359218.9:c.79361A>G (TTN) ENSP00000352154.5:p.Lys26454Arg
ENST00000460472.6:c.78986A>G (TTN) ENSP00000434586.1:p.Lys26329Arg
ENST00000589042.5:c.106181A>G (TTN) MANE Select ENSP00000467141.1:p.Lys35394Arg
ENST00000591111.5:c.101258A>G (TTN) ENSP00000465570.1:p.Lys33753Arg
ENST00000615779.4:c.101258A>G (TTN) ENSP00000483597.1:p.Lys33753Arg
NM_001256850.1:c.101258A>G (TTN) NP_001243779.1:p.Lys33753Arg
NM_001267550.2:c.106181A>G (TTN) MANE Select NP_001254479.2:p.Lys35394Arg
NM_003319.4:c.78986A>G (TTN) NP_003310.4:p.Lys26329Arg
NM_133378.4:c.98477A>G (TTN) NP_596869.4:p.Lys32826Arg
NM_133432.3:c.79361A>G (TTN) NP_597676.3:p.Lys26454Arg
NM_133437.4:c.79562A>G (TTN) NP_597681.4:p.Lys26521Arg
NR_038271.1:n.446+6798T>C (TTN-AS1)
NR_038272.1:n.220-5298T>C (TTN-AS1)
XM_011511729.1:c.105278A>G (TTN) XP_011510031.1:p.Lys35093Arg
XM_011511730.1:c.79172A>G (TTN) XP_011510032.1:p.Lys26391Arg
XM_011511731.1:c.79031A>G (TTN) XP_011510033.1:p.Lys26344Arg
XM_017004819.1:c.105074A>G (TTN) XP_016860308.1:p.Lys35025Arg
XM_017004820.1:c.100472A>G (TTN) XP_016860309.1:p.Lys33491Arg
XM_017004821.1:c.100469A>G (TTN) XP_016860310.1:p.Lys33490Arg
XM_017004822.1:c.97511A>G (TTN) XP_016860311.1:p.Lys32504Arg
XM_017004823.1:c.79127A>G (TTN) XP_016860312.1:p.Lys26376Arg
XM_024453094.1:c.100622A>G (TTN) XP_024308862.1:p.Lys33541Arg
XM_024453095.1:c.100619A>G (TTN) XP_024308863.1:p.Lys33540Arg
XM_024453096.1:c.100052A>G (TTN) XP_024308864.1:p.Lys33351Arg
XM_024453097.1:c.97394A>G (TTN) XP_024308865.1:p.Lys32465Arg
XM_024453098.1:c.97313A>G (TTN) XP_024308866.1:p.Lys32438Arg
XM_024453099.1:c.79076A>G (TTN) XP_024308867.1:p.Lys26359Arg
XM_024453100.1:c.68930A>G (TTN) XP_024308868.1:p.Lys22977Arg