Canonical Allele Identifier: CA349483654

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591129T>G , CM000664.2:g.178591129T>G GRCh38
NC_000002.11:g.179455856T>G , CM000664.1:g.179455856T>G GRCh37
NC_000002.10:g.179164102T>G NCBI36
NG_011618.3:g.244674A>C , LRG_391:g.244674A>C
NG_051363.1:g.73303T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52892A>C (TTN) ENSP00000343764.6:p.Asp17631Ala
ENST00000342175.11:c.33977A>C (TTN) ENSP00000340554.6:p.Asp11326Ala
ENST00000359218.10:c.33776A>C (TTN) ENSP00000352154.5:p.Asp11259Ala
ENST00000342175.10:c.33977A>C (TTN) ENSP00000340554.6:p.Asp11326Ala
ENST00000342992.10:c.52892A>C (TTN) ENSP00000343764.6:p.Asp17631Ala
ENST00000359218.9:c.33776A>C (TTN) ENSP00000352154.5:p.Asp11259Ala
ENST00000460472.6:c.33401A>C (TTN) ENSP00000434586.1:p.Asp11134Ala
ENST00000589042.5:c.60596A>C (TTN) MANE Select ENSP00000467141.1:p.Asp20199Ala
ENST00000591111.5:c.55673A>C (TTN) ENSP00000465570.1:p.Asp18558Ala
ENST00000615779.4:c.55673A>C (TTN) ENSP00000483597.1:p.Asp18558Ala
NM_001256850.1:c.55673A>C (TTN) NP_001243779.1:p.Asp18558Ala
NM_001267550.2:c.60596A>C (TTN) MANE Select NP_001254479.2:p.Asp20199Ala
NM_003319.4:c.33401A>C (TTN) NP_003310.4:p.Asp11134Ala
NM_133378.4:c.52892A>C (TTN) NP_596869.4:p.Asp17631Ala
NM_133432.3:c.33776A>C (TTN) NP_597676.3:p.Asp11259Ala
NM_133437.4:c.33977A>C (TTN) NP_597681.4:p.Asp11326Ala
NR_038271.1:n.597-6467T>G (TTN-AS1)
NR_038272.1:n.3189-10T>G (TTN-AS1)
XM_011511729.1:c.59693A>C (TTN) XP_011510031.1:p.Asp19898Ala
XM_011511730.1:c.33587A>C (TTN) XP_011510032.1:p.Asp11196Ala
XM_011511731.1:c.33446A>C (TTN) XP_011510033.1:p.Asp11149Ala
XM_017004819.1:c.59489A>C (TTN) XP_016860308.1:p.Asp19830Ala
XM_017004820.1:c.54887A>C (TTN) XP_016860309.1:p.Asp18296Ala
XM_017004821.1:c.54884A>C (TTN) XP_016860310.1:p.Asp18295Ala
XM_017004822.1:c.51926A>C (TTN) XP_016860311.1:p.Asp17309Ala
XM_017004823.1:c.33542A>C (TTN) XP_016860312.1:p.Asp11181Ala
XM_024453094.1:c.55037A>C (TTN) XP_024308862.1:p.Asp18346Ala
XM_024453095.1:c.55034A>C (TTN) XP_024308863.1:p.Asp18345Ala
XM_024453096.1:c.54467A>C (TTN) XP_024308864.1:p.Asp18156Ala
XM_024453097.1:c.51809A>C (TTN) XP_024308865.1:p.Asp17270Ala
XM_024453098.1:c.51728A>C (TTN) XP_024308866.1:p.Asp17243Ala
XM_024453099.1:c.33491A>C (TTN) XP_024308867.1:p.Asp11164Ala
XM_024453100.1:c.23345A>C (TTN) XP_024308868.1:p.Asp7782Ala