Canonical Allele Identifier: CA349647796

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573872A>C , CM000664.2:g.178573872A>C GRCh38
NC_000002.11:g.179438599A>C , CM000664.1:g.179438599A>C GRCh37
NC_000002.10:g.179146845A>C NCBI36
NG_011618.3:g.261931T>G , LRG_391:g.261931T>G
NG_051363.1:g.56046A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64556T>G (TTN) ENSP00000343764.6:p.Leu21519Arg
ENST00000342175.11:c.45641T>G (TTN) ENSP00000340554.6:p.Leu15214Arg
ENST00000359218.10:c.45440T>G (TTN) ENSP00000352154.5:p.Leu15147Arg
ENST00000342175.10:c.45641T>G (TTN) ENSP00000340554.6:p.Leu15214Arg
ENST00000342992.10:c.64556T>G (TTN) ENSP00000343764.6:p.Leu21519Arg
ENST00000359218.9:c.45440T>G (TTN) ENSP00000352154.5:p.Leu15147Arg
ENST00000460472.6:c.45065T>G (TTN) ENSP00000434586.1:p.Leu15022Arg
ENST00000589042.5:c.72260T>G (TTN) MANE Select ENSP00000467141.1:p.Leu24087Arg
ENST00000591111.5:c.67337T>G (TTN) ENSP00000465570.1:p.Leu22446Arg
ENST00000615779.4:c.67337T>G (TTN) ENSP00000483597.1:p.Leu22446Arg
NM_001256850.1:c.67337T>G (TTN) NP_001243779.1:p.Leu22446Arg
NM_001267550.2:c.72260T>G (TTN) MANE Select NP_001254479.2:p.Leu24087Arg
NM_003319.4:c.45065T>G (TTN) NP_003310.4:p.Leu15022Arg
NM_133378.4:c.64556T>G (TTN) NP_596869.4:p.Leu21519Arg
NM_133432.3:c.45440T>G (TTN) NP_597676.3:p.Leu15147Arg
NM_133437.4:c.45641T>G (TTN) NP_597681.4:p.Leu15214Arg
NR_038271.1:n.596+2423A>C (TTN-AS1)
NR_038272.1:n.2044-8700A>C (TTN-AS1)
XM_011511729.1:c.71357T>G (TTN) XP_011510031.1:p.Leu23786Arg
XM_011511730.1:c.45251T>G (TTN) XP_011510032.1:p.Leu15084Arg
XM_011511731.1:c.45110T>G (TTN) XP_011510033.1:p.Leu15037Arg
XM_017004819.1:c.71153T>G (TTN) XP_016860308.1:p.Leu23718Arg
XM_017004820.1:c.66551T>G (TTN) XP_016860309.1:p.Leu22184Arg
XM_017004821.1:c.66548T>G (TTN) XP_016860310.1:p.Leu22183Arg
XM_017004822.1:c.63590T>G (TTN) XP_016860311.1:p.Leu21197Arg
XM_017004823.1:c.45206T>G (TTN) XP_016860312.1:p.Leu15069Arg
XM_024453094.1:c.66701T>G (TTN) XP_024308862.1:p.Leu22234Arg
XM_024453095.1:c.66698T>G (TTN) XP_024308863.1:p.Leu22233Arg
XM_024453096.1:c.66131T>G (TTN) XP_024308864.1:p.Leu22044Arg
XM_024453097.1:c.63473T>G (TTN) XP_024308865.1:p.Leu21158Arg
XM_024453098.1:c.63392T>G (TTN) XP_024308866.1:p.Leu21131Arg
XM_024453099.1:c.45155T>G (TTN) XP_024308867.1:p.Leu15052Arg
XM_024453100.1:c.35009T>G (TTN) XP_024308868.1:p.Leu11670Arg