Canonical Allele Identifier: CA349411791

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532205T>A , CM000664.2:g.178532205T>A GRCh38
NC_000002.11:g.179396932T>A , CM000664.1:g.179396932T>A GRCh37
NC_000002.10:g.179105178T>A NCBI36
NG_011618.3:g.303598A>T , LRG_391:g.303598A>T
NG_051363.1:g.14379T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96706A>T (TTN) ENSP00000343764.6:p.Arg32236Trp
ENST00000342175.11:c.77791A>T (TTN) ENSP00000340554.6:p.Arg25931Trp
ENST00000359218.10:c.77590A>T (TTN) ENSP00000352154.5:p.Arg25864Trp
ENST00000342175.10:c.77791A>T (TTN) ENSP00000340554.6:p.Arg25931Trp
ENST00000342992.10:c.96706A>T (TTN) ENSP00000343764.6:p.Arg32236Trp
ENST00000359218.9:c.77590A>T (TTN) ENSP00000352154.5:p.Arg25864Trp
ENST00000460472.6:c.77215A>T (TTN) ENSP00000434586.1:p.Arg25739Trp
ENST00000589042.5:c.104410A>T (TTN) MANE Select ENSP00000467141.1:p.Arg34804Trp
ENST00000591111.5:c.99487A>T (TTN) ENSP00000465570.1:p.Arg33163Trp
ENST00000615779.4:c.99487A>T (TTN) ENSP00000483597.1:p.Arg33163Trp
NM_001256850.1:c.99487A>T (TTN) NP_001243779.1:p.Arg33163Trp
NM_001267550.2:c.104410A>T (TTN) MANE Select NP_001254479.2:p.Arg34804Trp
NM_003319.4:c.77215A>T (TTN) NP_003310.4:p.Arg25739Trp
NM_133378.4:c.96706A>T (TTN) NP_596869.4:p.Arg32236Trp
NM_133432.3:c.77590A>T (TTN) NP_597676.3:p.Arg25864Trp
NM_133437.4:c.77791A>T (TTN) NP_597681.4:p.Arg25931Trp
NR_038271.1:n.446+8569T>A (TTN-AS1)
NR_038272.1:n.220-3527T>A (TTN-AS1)
XM_011511729.1:c.103507A>T (TTN) XP_011510031.1:p.Arg34503Trp
XM_011511730.1:c.77401A>T (TTN) XP_011510032.1:p.Arg25801Trp
XM_011511731.1:c.77260A>T (TTN) XP_011510033.1:p.Arg25754Trp
XM_017004819.1:c.103303A>T (TTN) XP_016860308.1:p.Arg34435Trp
XM_017004820.1:c.98701A>T (TTN) XP_016860309.1:p.Arg32901Trp
XM_017004821.1:c.98698A>T (TTN) XP_016860310.1:p.Arg32900Trp
XM_017004822.1:c.95740A>T (TTN) XP_016860311.1:p.Arg31914Trp
XM_017004823.1:c.77356A>T (TTN) XP_016860312.1:p.Arg25786Trp
XM_024453094.1:c.98851A>T (TTN) XP_024308862.1:p.Arg32951Trp
XM_024453095.1:c.98848A>T (TTN) XP_024308863.1:p.Arg32950Trp
XM_024453096.1:c.98281A>T (TTN) XP_024308864.1:p.Arg32761Trp
XM_024453097.1:c.95623A>T (TTN) XP_024308865.1:p.Arg31875Trp
XM_024453098.1:c.95542A>T (TTN) XP_024308866.1:p.Arg31848Trp
XM_024453099.1:c.77305A>T (TTN) XP_024308867.1:p.Arg25769Trp
XM_024453100.1:c.67159A>T (TTN) XP_024308868.1:p.Arg22387Trp