Canonical Allele Identifier: CA349496807

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593078G>T , CM000664.2:g.178593078G>T GRCh38
NC_000002.11:g.179457805G>T , CM000664.1:g.179457805G>T GRCh37
NC_000002.10:g.179166051G>T NCBI36
NG_011618.3:g.242725C>A , LRG_391:g.242725C>A
NG_051363.1:g.75252G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51337C>A (TTN) ENSP00000343764.6:p.Pro17113Thr
ENST00000342175.11:c.32422C>A (TTN) ENSP00000340554.6:p.Pro10808Thr
ENST00000359218.10:c.32221C>A (TTN) ENSP00000352154.5:p.Pro10741Thr
ENST00000342175.10:c.32422C>A (TTN) ENSP00000340554.6:p.Pro10808Thr
ENST00000342992.10:c.51337C>A (TTN) ENSP00000343764.6:p.Pro17113Thr
ENST00000359218.9:c.32221C>A (TTN) ENSP00000352154.5:p.Pro10741Thr
ENST00000460472.6:c.31846C>A (TTN) ENSP00000434586.1:p.Pro10616Thr
ENST00000589042.5:c.59041C>A (TTN) MANE Select ENSP00000467141.1:p.Pro19681Thr
ENST00000591111.5:c.54118C>A (TTN) ENSP00000465570.1:p.Pro18040Thr
ENST00000615779.4:c.54118C>A (TTN) ENSP00000483597.1:p.Pro18040Thr
NM_001256850.1:c.54118C>A (TTN) NP_001243779.1:p.Pro18040Thr
NM_001267550.2:c.59041C>A (TTN) MANE Select NP_001254479.2:p.Pro19681Thr
NM_003319.4:c.31846C>A (TTN) NP_003310.4:p.Pro10616Thr
NM_133378.4:c.51337C>A (TTN) NP_596869.4:p.Pro17113Thr
NM_133432.3:c.32221C>A (TTN) NP_597676.3:p.Pro10741Thr
NM_133437.4:c.32422C>A (TTN) NP_597681.4:p.Pro10808Thr
NR_038271.1:n.597-4518G>T (TTN-AS1)
NR_038272.1:n.3364+1764G>T (TTN-AS1)
XM_011511729.1:c.58138C>A (TTN) XP_011510031.1:p.Pro19380Thr
XM_011511730.1:c.32032C>A (TTN) XP_011510032.1:p.Pro10678Thr
XM_011511731.1:c.31891C>A (TTN) XP_011510033.1:p.Pro10631Thr
XM_017004819.1:c.57934C>A (TTN) XP_016860308.1:p.Pro19312Thr
XM_017004820.1:c.53332C>A (TTN) XP_016860309.1:p.Pro17778Thr
XM_017004821.1:c.53329C>A (TTN) XP_016860310.1:p.Pro17777Thr
XM_017004822.1:c.50371C>A (TTN) XP_016860311.1:p.Pro16791Thr
XM_017004823.1:c.31987C>A (TTN) XP_016860312.1:p.Pro10663Thr
XM_024453094.1:c.53482C>A (TTN) XP_024308862.1:p.Pro17828Thr
XM_024453095.1:c.53479C>A (TTN) XP_024308863.1:p.Pro17827Thr
XM_024453096.1:c.52912C>A (TTN) XP_024308864.1:p.Pro17638Thr
XM_024453097.1:c.50254C>A (TTN) XP_024308865.1:p.Pro16752Thr
XM_024453098.1:c.50173C>A (TTN) XP_024308866.1:p.Pro16725Thr
XM_024453099.1:c.31936C>A (TTN) XP_024308867.1:p.Pro10646Thr
XM_024453100.1:c.21790C>A (TTN) XP_024308868.1:p.Pro7264Thr