Canonical Allele Identifier: CA349418116

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534401A>T , CM000664.2:g.178534401A>T GRCh38
NC_000002.11:g.179399128A>T , CM000664.1:g.179399128A>T GRCh37
NC_000002.10:g.179107374A>T NCBI36
NG_011618.3:g.301402T>A , LRG_391:g.301402T>A
NG_051363.1:g.16575A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.94510T>A (TTN) ENSP00000343764.6:p.Trp31504Arg
ENST00000342175.11:c.75595T>A (TTN) ENSP00000340554.6:p.Trp25199Arg
ENST00000359218.10:c.75394T>A (TTN) ENSP00000352154.5:p.Trp25132Arg
ENST00000342175.10:c.75595T>A (TTN) ENSP00000340554.6:p.Trp25199Arg
ENST00000342992.10:c.94510T>A (TTN) ENSP00000343764.6:p.Trp31504Arg
ENST00000359218.9:c.75394T>A (TTN) ENSP00000352154.5:p.Trp25132Arg
ENST00000460472.6:c.75019T>A (TTN) ENSP00000434586.1:p.Trp25007Arg
ENST00000589042.5:c.102214T>A (TTN) MANE Select ENSP00000467141.1:p.Trp34072Arg
ENST00000591111.5:c.97291T>A (TTN) ENSP00000465570.1:p.Trp32431Arg
ENST00000615779.4:c.97291T>A (TTN) ENSP00000483597.1:p.Trp32431Arg
NM_001256850.1:c.97291T>A (TTN) NP_001243779.1:p.Trp32431Arg
NM_001267550.2:c.102214T>A (TTN) MANE Select NP_001254479.2:p.Trp34072Arg
NM_003319.4:c.75019T>A (TTN) NP_003310.4:p.Trp25007Arg
NM_133378.4:c.94510T>A (TTN) NP_596869.4:p.Trp31504Arg
NM_133432.3:c.75394T>A (TTN) NP_597676.3:p.Trp25132Arg
NM_133437.4:c.75595T>A (TTN) NP_597681.4:p.Trp25199Arg
NR_038271.1:n.446+10765A>T (TTN-AS1)
NR_038272.1:n.220-1331A>T (TTN-AS1)
XM_011511729.1:c.101311T>A (TTN) XP_011510031.1:p.Trp33771Arg
XM_011511730.1:c.75205T>A (TTN) XP_011510032.1:p.Trp25069Arg
XM_011511731.1:c.75064T>A (TTN) XP_011510033.1:p.Trp25022Arg
XM_017004819.1:c.101107T>A (TTN) XP_016860308.1:p.Trp33703Arg
XM_017004820.1:c.96505T>A (TTN) XP_016860309.1:p.Trp32169Arg
XM_017004821.1:c.96502T>A (TTN) XP_016860310.1:p.Trp32168Arg
XM_017004822.1:c.93544T>A (TTN) XP_016860311.1:p.Trp31182Arg
XM_017004823.1:c.75160T>A (TTN) XP_016860312.1:p.Trp25054Arg
XM_024453094.1:c.96655T>A (TTN) XP_024308862.1:p.Trp32219Arg
XM_024453095.1:c.96652T>A (TTN) XP_024308863.1:p.Trp32218Arg
XM_024453096.1:c.96085T>A (TTN) XP_024308864.1:p.Trp32029Arg
XM_024453097.1:c.93427T>A (TTN) XP_024308865.1:p.Trp31143Arg
XM_024453098.1:c.93346T>A (TTN) XP_024308866.1:p.Trp31116Arg
XM_024453099.1:c.75109T>A (TTN) XP_024308867.1:p.Trp25037Arg
XM_024453100.1:c.64963T>A (TTN) XP_024308868.1:p.Trp21655Arg