Canonical Allele Identifier: CA349495763

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549796A>C , CM000664.2:g.178549796A>C GRCh38
NC_000002.11:g.179414523A>C , CM000664.1:g.179414523A>C GRCh37
NC_000002.10:g.179122769A>C NCBI36
NG_011618.3:g.286007T>G , LRG_391:g.286007T>G
NG_051363.1:g.31970A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84222T>G (TTN) ENSP00000343764.6:p.Asp28074Glu
ENST00000342175.11:c.65307T>G (TTN) ENSP00000340554.6:p.Asp21769Glu
ENST00000359218.10:c.65106T>G (TTN) ENSP00000352154.5:p.Asp21702Glu
ENST00000342175.10:c.65307T>G (TTN) ENSP00000340554.6:p.Asp21769Glu
ENST00000342992.10:c.84222T>G (TTN) ENSP00000343764.6:p.Asp28074Glu
ENST00000359218.9:c.65106T>G (TTN) ENSP00000352154.5:p.Asp21702Glu
ENST00000460472.6:c.64731T>G (TTN) ENSP00000434586.1:p.Asp21577Glu
ENST00000589042.5:c.91926T>G (TTN) MANE Select ENSP00000467141.1:p.Asp30642Glu
ENST00000591111.5:c.87003T>G (TTN) ENSP00000465570.1:p.Asp29001Glu
ENST00000615779.4:c.87003T>G (TTN) ENSP00000483597.1:p.Asp29001Glu
NM_001256850.1:c.87003T>G (TTN) NP_001243779.1:p.Asp29001Glu
NM_001267550.2:c.91926T>G (TTN) MANE Select NP_001254479.2:p.Asp30642Glu
NM_003319.4:c.64731T>G (TTN) NP_003310.4:p.Asp21577Glu
NM_133378.4:c.84222T>G (TTN) NP_596869.4:p.Asp28074Glu
NM_133432.3:c.65106T>G (TTN) NP_597676.3:p.Asp21702Glu
NM_133437.4:c.65307T>G (TTN) NP_597681.4:p.Asp21769Glu
NR_038271.1:n.447-21504A>C (TTN-AS1)
NR_038272.1:n.2043+7435A>C (TTN-AS1)
XM_011511729.1:c.91023T>G (TTN) XP_011510031.1:p.Asp30341Glu
XM_011511730.1:c.64917T>G (TTN) XP_011510032.1:p.Asp21639Glu
XM_011511731.1:c.64776T>G (TTN) XP_011510033.1:p.Asp21592Glu
XM_017004819.1:c.90819T>G (TTN) XP_016860308.1:p.Asp30273Glu
XM_017004820.1:c.86217T>G (TTN) XP_016860309.1:p.Asp28739Glu
XM_017004821.1:c.86214T>G (TTN) XP_016860310.1:p.Asp28738Glu
XM_017004822.1:c.83256T>G (TTN) XP_016860311.1:p.Asp27752Glu
XM_017004823.1:c.64872T>G (TTN) XP_016860312.1:p.Asp21624Glu
XM_024453094.1:c.86367T>G (TTN) XP_024308862.1:p.Asp28789Glu
XM_024453095.1:c.86364T>G (TTN) XP_024308863.1:p.Asp28788Glu
XM_024453096.1:c.85797T>G (TTN) XP_024308864.1:p.Asp28599Glu
XM_024453097.1:c.83139T>G (TTN) XP_024308865.1:p.Asp27713Glu
XM_024453098.1:c.83058T>G (TTN) XP_024308866.1:p.Asp27686Glu
XM_024453099.1:c.64821T>G (TTN) XP_024308867.1:p.Asp21607Glu
XM_024453100.1:c.54675T>G (TTN) XP_024308868.1:p.Asp18225Glu