Canonical Allele Identifier: CA349436071

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584677A>C , CM000664.2:g.178584677A>C GRCh38
NC_000002.11:g.179449404A>C , CM000664.1:g.179449404A>C GRCh37
NC_000002.10:g.179157650A>C NCBI36
NG_011618.3:g.251126T>G , LRG_391:g.251126T>G
NG_051363.1:g.66851A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57260T>G (TTN) ENSP00000343764.6:p.Phe19087Cys
ENST00000342175.11:c.38345T>G (TTN) ENSP00000340554.6:p.Phe12782Cys
ENST00000359218.10:c.38144T>G (TTN) ENSP00000352154.5:p.Phe12715Cys
ENST00000342175.10:c.38345T>G (TTN) ENSP00000340554.6:p.Phe12782Cys
ENST00000342992.10:c.57260T>G (TTN) ENSP00000343764.6:p.Phe19087Cys
ENST00000359218.9:c.38144T>G (TTN) ENSP00000352154.5:p.Phe12715Cys
ENST00000460472.6:c.37769T>G (TTN) ENSP00000434586.1:p.Phe12590Cys
ENST00000589042.5:c.64964T>G (TTN) MANE Select ENSP00000467141.1:p.Phe21655Cys
ENST00000591111.5:c.60041T>G (TTN) ENSP00000465570.1:p.Phe20014Cys
ENST00000615779.4:c.60041T>G (TTN) ENSP00000483597.1:p.Phe20014Cys
NM_001256850.1:c.60041T>G (TTN) NP_001243779.1:p.Phe20014Cys
NM_001267550.2:c.64964T>G (TTN) MANE Select NP_001254479.2:p.Phe21655Cys
NM_003319.4:c.37769T>G (TTN) NP_003310.4:p.Phe12590Cys
NM_133378.4:c.57260T>G (TTN) NP_596869.4:p.Phe19087Cys
NM_133432.3:c.38144T>G (TTN) NP_597676.3:p.Phe12715Cys
NM_133437.4:c.38345T>G (TTN) NP_597681.4:p.Phe12782Cys
NR_038271.1:n.597-12919A>C (TTN-AS1)
NR_038272.1:n.2872A>C (TTN-AS1)
XM_011511729.1:c.64061T>G (TTN) XP_011510031.1:p.Phe21354Cys
XM_011511730.1:c.37955T>G (TTN) XP_011510032.1:p.Phe12652Cys
XM_011511731.1:c.37814T>G (TTN) XP_011510033.1:p.Phe12605Cys
XM_017004819.1:c.63857T>G (TTN) XP_016860308.1:p.Phe21286Cys
XM_017004820.1:c.59255T>G (TTN) XP_016860309.1:p.Phe19752Cys
XM_017004821.1:c.59252T>G (TTN) XP_016860310.1:p.Phe19751Cys
XM_017004822.1:c.56294T>G (TTN) XP_016860311.1:p.Phe18765Cys
XM_017004823.1:c.37910T>G (TTN) XP_016860312.1:p.Phe12637Cys
XM_024453094.1:c.59405T>G (TTN) XP_024308862.1:p.Phe19802Cys
XM_024453095.1:c.59402T>G (TTN) XP_024308863.1:p.Phe19801Cys
XM_024453096.1:c.58835T>G (TTN) XP_024308864.1:p.Phe19612Cys
XM_024453097.1:c.56177T>G (TTN) XP_024308865.1:p.Phe18726Cys
XM_024453098.1:c.56096T>G (TTN) XP_024308866.1:p.Phe18699Cys
XM_024453099.1:c.37859T>G (TTN) XP_024308867.1:p.Phe12620Cys
XM_024453100.1:c.27713T>G (TTN) XP_024308868.1:p.Phe9238Cys