Canonical Allele Identifier: CA349495483

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549758T>C , CM000664.2:g.178549758T>C GRCh38
NC_000002.11:g.179414485T>C , CM000664.1:g.179414485T>C GRCh37
NC_000002.10:g.179122731T>C NCBI36
NG_011618.3:g.286045A>G , LRG_391:g.286045A>G
NG_051363.1:g.31932T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.84260A>G (TTN) ENSP00000343764.6:p.Tyr28087Cys
ENST00000342175.11:c.65345A>G (TTN) ENSP00000340554.6:p.Tyr21782Cys
ENST00000359218.10:c.65144A>G (TTN) ENSP00000352154.5:p.Tyr21715Cys
ENST00000342175.10:c.65345A>G (TTN) ENSP00000340554.6:p.Tyr21782Cys
ENST00000342992.10:c.84260A>G (TTN) ENSP00000343764.6:p.Tyr28087Cys
ENST00000359218.9:c.65144A>G (TTN) ENSP00000352154.5:p.Tyr21715Cys
ENST00000460472.6:c.64769A>G (TTN) ENSP00000434586.1:p.Tyr21590Cys
ENST00000589042.5:c.91964A>G (TTN) MANE Select ENSP00000467141.1:p.Tyr30655Cys
ENST00000591111.5:c.87041A>G (TTN) ENSP00000465570.1:p.Tyr29014Cys
ENST00000615779.4:c.87041A>G (TTN) ENSP00000483597.1:p.Tyr29014Cys
NM_001256850.1:c.87041A>G (TTN) NP_001243779.1:p.Tyr29014Cys
NM_001267550.2:c.91964A>G (TTN) MANE Select NP_001254479.2:p.Tyr30655Cys
NM_003319.4:c.64769A>G (TTN) NP_003310.4:p.Tyr21590Cys
NM_133378.4:c.84260A>G (TTN) NP_596869.4:p.Tyr28087Cys
NM_133432.3:c.65144A>G (TTN) NP_597676.3:p.Tyr21715Cys
NM_133437.4:c.65345A>G (TTN) NP_597681.4:p.Tyr21782Cys
NR_038271.1:n.447-21542T>C (TTN-AS1)
NR_038272.1:n.2043+7397T>C (TTN-AS1)
XM_011511729.1:c.91061A>G (TTN) XP_011510031.1:p.Tyr30354Cys
XM_011511730.1:c.64955A>G (TTN) XP_011510032.1:p.Tyr21652Cys
XM_011511731.1:c.64814A>G (TTN) XP_011510033.1:p.Tyr21605Cys
XM_017004819.1:c.90857A>G (TTN) XP_016860308.1:p.Tyr30286Cys
XM_017004820.1:c.86255A>G (TTN) XP_016860309.1:p.Tyr28752Cys
XM_017004821.1:c.86252A>G (TTN) XP_016860310.1:p.Tyr28751Cys
XM_017004822.1:c.83294A>G (TTN) XP_016860311.1:p.Tyr27765Cys
XM_017004823.1:c.64910A>G (TTN) XP_016860312.1:p.Tyr21637Cys
XM_024453094.1:c.86405A>G (TTN) XP_024308862.1:p.Tyr28802Cys
XM_024453095.1:c.86402A>G (TTN) XP_024308863.1:p.Tyr28801Cys
XM_024453096.1:c.85835A>G (TTN) XP_024308864.1:p.Tyr28612Cys
XM_024453097.1:c.83177A>G (TTN) XP_024308865.1:p.Tyr27726Cys
XM_024453098.1:c.83096A>G (TTN) XP_024308866.1:p.Tyr27699Cys
XM_024453099.1:c.64859A>G (TTN) XP_024308867.1:p.Tyr21620Cys
XM_024453100.1:c.54713A>G (TTN) XP_024308868.1:p.Tyr18238Cys