Canonical Allele Identifier: CA349446120

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543306A>T , CM000664.2:g.178543306A>T GRCh38
NC_000002.11:g.179408033A>T , CM000664.1:g.179408033A>T GRCh37
NC_000002.10:g.179116279A>T NCBI36
NG_011618.3:g.292497T>A , LRG_391:g.292497T>A
NG_051363.1:g.25480A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88963T>A (TTN) ENSP00000343764.6:p.Trp29655Arg
ENST00000342175.11:c.70048T>A (TTN) ENSP00000340554.6:p.Trp23350Arg
ENST00000359218.10:c.69847T>A (TTN) ENSP00000352154.5:p.Trp23283Arg
ENST00000342175.10:c.70048T>A (TTN) ENSP00000340554.6:p.Trp23350Arg
ENST00000342992.10:c.88963T>A (TTN) ENSP00000343764.6:p.Trp29655Arg
ENST00000359218.9:c.69847T>A (TTN) ENSP00000352154.5:p.Trp23283Arg
ENST00000460472.6:c.69472T>A (TTN) ENSP00000434586.1:p.Trp23158Arg
ENST00000589042.5:c.96667T>A (TTN) MANE Select ENSP00000467141.1:p.Trp32223Arg
ENST00000591111.5:c.91744T>A (TTN) ENSP00000465570.1:p.Trp30582Arg
ENST00000615779.4:c.91744T>A (TTN) ENSP00000483597.1:p.Trp30582Arg
NM_001256850.1:c.91744T>A (TTN) NP_001243779.1:p.Trp30582Arg
NM_001267550.2:c.96667T>A (TTN) MANE Select NP_001254479.2:p.Trp32223Arg
NM_003319.4:c.69472T>A (TTN) NP_003310.4:p.Trp23158Arg
NM_133378.4:c.88963T>A (TTN) NP_596869.4:p.Trp29655Arg
NM_133432.3:c.69847T>A (TTN) NP_597676.3:p.Trp23283Arg
NM_133437.4:c.70048T>A (TTN) NP_597681.4:p.Trp23350Arg
NR_038271.1:n.446+19670A>T (TTN-AS1)
NR_038272.1:n.2043+945A>T (TTN-AS1)
XM_011511729.1:c.95764T>A (TTN) XP_011510031.1:p.Trp31922Arg
XM_011511730.1:c.69658T>A (TTN) XP_011510032.1:p.Trp23220Arg
XM_011511731.1:c.69517T>A (TTN) XP_011510033.1:p.Trp23173Arg
XM_017004819.1:c.95560T>A (TTN) XP_016860308.1:p.Trp31854Arg
XM_017004820.1:c.90958T>A (TTN) XP_016860309.1:p.Trp30320Arg
XM_017004821.1:c.90955T>A (TTN) XP_016860310.1:p.Trp30319Arg
XM_017004822.1:c.87997T>A (TTN) XP_016860311.1:p.Trp29333Arg
XM_017004823.1:c.69613T>A (TTN) XP_016860312.1:p.Trp23205Arg
XM_024453094.1:c.91108T>A (TTN) XP_024308862.1:p.Trp30370Arg
XM_024453095.1:c.91105T>A (TTN) XP_024308863.1:p.Trp30369Arg
XM_024453096.1:c.90538T>A (TTN) XP_024308864.1:p.Trp30180Arg
XM_024453097.1:c.87880T>A (TTN) XP_024308865.1:p.Trp29294Arg
XM_024453098.1:c.87799T>A (TTN) XP_024308866.1:p.Trp29267Arg
XM_024453099.1:c.69562T>A (TTN) XP_024308867.1:p.Trp23188Arg
XM_024453100.1:c.59416T>A (TTN) XP_024308868.1:p.Trp19806Arg