Canonical Allele Identifier: CA349616345

Linked Data

dbSNP Id: rs781781445

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569884G>T , CM000664.2:g.178569884G>T GRCh38
NC_000002.11:g.179434611G>T , CM000664.1:g.179434611G>T GRCh37
NC_000002.10:g.179142857G>T NCBI36
NG_011618.3:g.265919C>A , LRG_391:g.265919C>A
NG_051363.1:g.52058G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.68544C>A (TTN) ENSP00000343764.6:p.Asp22848Glu
ENST00000342175.11:c.49629C>A (TTN) ENSP00000340554.6:p.Asp16543Glu
ENST00000359218.10:c.49428C>A (TTN) ENSP00000352154.5:p.Asp16476Glu
ENST00000342175.10:c.49629C>A (TTN) ENSP00000340554.6:p.Asp16543Glu
ENST00000342992.10:c.68544C>A (TTN) ENSP00000343764.6:p.Asp22848Glu
ENST00000359218.9:c.49428C>A (TTN) ENSP00000352154.5:p.Asp16476Glu
ENST00000460472.6:c.49053C>A (TTN) ENSP00000434586.1:p.Asp16351Glu
ENST00000589042.5:c.76248C>A (TTN) MANE Select ENSP00000467141.1:p.Asp25416Glu
ENST00000591111.5:c.71325C>A (TTN) ENSP00000465570.1:p.Asp23775Glu
ENST00000615779.4:c.71325C>A (TTN) ENSP00000483597.1:p.Asp23775Glu
NM_001256850.1:c.71325C>A (TTN) NP_001243779.1:p.Asp23775Glu
NM_001267550.2:c.76248C>A (TTN) MANE Select NP_001254479.2:p.Asp25416Glu
NM_003319.4:c.49053C>A (TTN) NP_003310.4:p.Asp16351Glu
NM_133378.4:c.68544C>A (TTN) NP_596869.4:p.Asp22848Glu
NM_133432.3:c.49428C>A (TTN) NP_597676.3:p.Asp16476Glu
NM_133437.4:c.49629C>A (TTN) NP_597681.4:p.Asp16543Glu
NR_038271.1:n.447-1416G>T (TTN-AS1)
NR_038272.1:n.2044-12688G>T (TTN-AS1)
XM_011511729.1:c.75345C>A (TTN) XP_011510031.1:p.Asp25115Glu
XM_011511730.1:c.49239C>A (TTN) XP_011510032.1:p.Asp16413Glu
XM_011511731.1:c.49098C>A (TTN) XP_011510033.1:p.Asp16366Glu
XM_017004819.1:c.75141C>A (TTN) XP_016860308.1:p.Asp25047Glu
XM_017004820.1:c.70539C>A (TTN) XP_016860309.1:p.Asp23513Glu
XM_017004821.1:c.70536C>A (TTN) XP_016860310.1:p.Asp23512Glu
XM_017004822.1:c.67578C>A (TTN) XP_016860311.1:p.Asp22526Glu
XM_017004823.1:c.49194C>A (TTN) XP_016860312.1:p.Asp16398Glu
XM_024453094.1:c.70689C>A (TTN) XP_024308862.1:p.Asp23563Glu
XM_024453095.1:c.70686C>A (TTN) XP_024308863.1:p.Asp23562Glu
XM_024453096.1:c.70119C>A (TTN) XP_024308864.1:p.Asp23373Glu
XM_024453097.1:c.67461C>A (TTN) XP_024308865.1:p.Asp22487Glu
XM_024453098.1:c.67380C>A (TTN) XP_024308866.1:p.Asp22460Glu
XM_024453099.1:c.49143C>A (TTN) XP_024308867.1:p.Asp16381Glu
XM_024453100.1:c.38997C>A (TTN) XP_024308868.1:p.Asp12999Glu