Canonical Allele Identifier: CA349483647

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591128A>C , CM000664.2:g.178591128A>C GRCh38
NC_000002.11:g.179455855A>C , CM000664.1:g.179455855A>C GRCh37
NC_000002.10:g.179164101A>C NCBI36
NG_011618.3:g.244675T>G , LRG_391:g.244675T>G
NG_051363.1:g.73302A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52893T>G (TTN) ENSP00000343764.6:p.Asp17631Glu
ENST00000342175.11:c.33978T>G (TTN) ENSP00000340554.6:p.Asp11326Glu
ENST00000359218.10:c.33777T>G (TTN) ENSP00000352154.5:p.Asp11259Glu
ENST00000342175.10:c.33978T>G (TTN) ENSP00000340554.6:p.Asp11326Glu
ENST00000342992.10:c.52893T>G (TTN) ENSP00000343764.6:p.Asp17631Glu
ENST00000359218.9:c.33777T>G (TTN) ENSP00000352154.5:p.Asp11259Glu
ENST00000460472.6:c.33402T>G (TTN) ENSP00000434586.1:p.Asp11134Glu
ENST00000589042.5:c.60597T>G (TTN) MANE Select ENSP00000467141.1:p.Asp20199Glu
ENST00000591111.5:c.55674T>G (TTN) ENSP00000465570.1:p.Asp18558Glu
ENST00000615779.4:c.55674T>G (TTN) ENSP00000483597.1:p.Asp18558Glu
NM_001256850.1:c.55674T>G (TTN) NP_001243779.1:p.Asp18558Glu
NM_001267550.2:c.60597T>G (TTN) MANE Select NP_001254479.2:p.Asp20199Glu
NM_003319.4:c.33402T>G (TTN) NP_003310.4:p.Asp11134Glu
NM_133378.4:c.52893T>G (TTN) NP_596869.4:p.Asp17631Glu
NM_133432.3:c.33777T>G (TTN) NP_597676.3:p.Asp11259Glu
NM_133437.4:c.33978T>G (TTN) NP_597681.4:p.Asp11326Glu
NR_038271.1:n.597-6468A>C (TTN-AS1)
NR_038272.1:n.3189-11A>C (TTN-AS1)
XM_011511729.1:c.59694T>G (TTN) XP_011510031.1:p.Asp19898Glu
XM_011511730.1:c.33588T>G (TTN) XP_011510032.1:p.Asp11196Glu
XM_011511731.1:c.33447T>G (TTN) XP_011510033.1:p.Asp11149Glu
XM_017004819.1:c.59490T>G (TTN) XP_016860308.1:p.Asp19830Glu
XM_017004820.1:c.54888T>G (TTN) XP_016860309.1:p.Asp18296Glu
XM_017004821.1:c.54885T>G (TTN) XP_016860310.1:p.Asp18295Glu
XM_017004822.1:c.51927T>G (TTN) XP_016860311.1:p.Asp17309Glu
XM_017004823.1:c.33543T>G (TTN) XP_016860312.1:p.Asp11181Glu
XM_024453094.1:c.55038T>G (TTN) XP_024308862.1:p.Asp18346Glu
XM_024453095.1:c.55035T>G (TTN) XP_024308863.1:p.Asp18345Glu
XM_024453096.1:c.54468T>G (TTN) XP_024308864.1:p.Asp18156Glu
XM_024453097.1:c.51810T>G (TTN) XP_024308865.1:p.Asp17270Glu
XM_024453098.1:c.51729T>G (TTN) XP_024308866.1:p.Asp17243Glu
XM_024453099.1:c.33492T>G (TTN) XP_024308867.1:p.Asp11164Glu
XM_024453100.1:c.23346T>G (TTN) XP_024308868.1:p.Asp7782Glu