Canonical Allele Identifier: CA349454940

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544217C>A , CM000664.2:g.178544217C>A GRCh38
NC_000002.11:g.179408944C>A , CM000664.1:g.179408944C>A GRCh37
NC_000002.10:g.179117190C>A NCBI36
NG_011618.3:g.291586G>T , LRG_391:g.291586G>T
NG_051363.1:g.26391C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88308G>T (TTN) ENSP00000343764.6:p.Glu29436Asp
ENST00000342175.11:c.69393G>T (TTN) ENSP00000340554.6:p.Glu23131Asp
ENST00000359218.10:c.69192G>T (TTN) ENSP00000352154.5:p.Glu23064Asp
ENST00000342175.10:c.69393G>T (TTN) ENSP00000340554.6:p.Glu23131Asp
ENST00000342992.10:c.88308G>T (TTN) ENSP00000343764.6:p.Glu29436Asp
ENST00000359218.9:c.69192G>T (TTN) ENSP00000352154.5:p.Glu23064Asp
ENST00000460472.6:c.68817G>T (TTN) ENSP00000434586.1:p.Glu22939Asp
ENST00000589042.5:c.96012G>T (TTN) MANE Select ENSP00000467141.1:p.Glu32004Asp
ENST00000591111.5:c.91089G>T (TTN) ENSP00000465570.1:p.Glu30363Asp
ENST00000615779.4:c.91089G>T (TTN) ENSP00000483597.1:p.Glu30363Asp
NM_001256850.1:c.91089G>T (TTN) NP_001243779.1:p.Glu30363Asp
NM_001267550.2:c.96012G>T (TTN) MANE Select NP_001254479.2:p.Glu32004Asp
NM_003319.4:c.68817G>T (TTN) NP_003310.4:p.Glu22939Asp
NM_133378.4:c.88308G>T (TTN) NP_596869.4:p.Glu29436Asp
NM_133432.3:c.69192G>T (TTN) NP_597676.3:p.Glu23064Asp
NM_133437.4:c.69393G>T (TTN) NP_597681.4:p.Glu23131Asp
NR_038271.1:n.446+20581C>A (TTN-AS1)
NR_038272.1:n.2043+1856C>A (TTN-AS1)
XM_011511729.1:c.95109G>T (TTN) XP_011510031.1:p.Glu31703Asp
XM_011511730.1:c.69003G>T (TTN) XP_011510032.1:p.Glu23001Asp
XM_011511731.1:c.68862G>T (TTN) XP_011510033.1:p.Glu22954Asp
XM_017004819.1:c.94905G>T (TTN) XP_016860308.1:p.Glu31635Asp
XM_017004820.1:c.90303G>T (TTN) XP_016860309.1:p.Glu30101Asp
XM_017004821.1:c.90300G>T (TTN) XP_016860310.1:p.Glu30100Asp
XM_017004822.1:c.87342G>T (TTN) XP_016860311.1:p.Glu29114Asp
XM_017004823.1:c.68958G>T (TTN) XP_016860312.1:p.Glu22986Asp
XM_024453094.1:c.90453G>T (TTN) XP_024308862.1:p.Glu30151Asp
XM_024453095.1:c.90450G>T (TTN) XP_024308863.1:p.Glu30150Asp
XM_024453096.1:c.89883G>T (TTN) XP_024308864.1:p.Glu29961Asp
XM_024453097.1:c.87225G>T (TTN) XP_024308865.1:p.Glu29075Asp
XM_024453098.1:c.87144G>T (TTN) XP_024308866.1:p.Glu29048Asp
XM_024453099.1:c.68907G>T (TTN) XP_024308867.1:p.Glu22969Asp
XM_024453100.1:c.58761G>T (TTN) XP_024308868.1:p.Glu19587Asp