Canonical Allele Identifier: CA349495504

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549761T>C , CM000664.2:g.178549761T>C GRCh38
NC_000002.11:g.179414488T>C , CM000664.1:g.179414488T>C GRCh37
NC_000002.10:g.179122734T>C NCBI36
NG_011618.3:g.286042A>G , LRG_391:g.286042A>G
NG_051363.1:g.31935T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.84257A>G (TTN) ENSP00000343764.6:p.His28086Arg
ENST00000342175.11:c.65342A>G (TTN) ENSP00000340554.6:p.His21781Arg
ENST00000359218.10:c.65141A>G (TTN) ENSP00000352154.5:p.His21714Arg
ENST00000342175.10:c.65342A>G (TTN) ENSP00000340554.6:p.His21781Arg
ENST00000342992.10:c.84257A>G (TTN) ENSP00000343764.6:p.His28086Arg
ENST00000359218.9:c.65141A>G (TTN) ENSP00000352154.5:p.His21714Arg
ENST00000460472.6:c.64766A>G (TTN) ENSP00000434586.1:p.His21589Arg
ENST00000589042.5:c.91961A>G (TTN) MANE Select ENSP00000467141.1:p.His30654Arg
ENST00000591111.5:c.87038A>G (TTN) ENSP00000465570.1:p.His29013Arg
ENST00000615779.4:c.87038A>G (TTN) ENSP00000483597.1:p.His29013Arg
NM_001256850.1:c.87038A>G (TTN) NP_001243779.1:p.His29013Arg
NM_001267550.2:c.91961A>G (TTN) MANE Select NP_001254479.2:p.His30654Arg
NM_003319.4:c.64766A>G (TTN) NP_003310.4:p.His21589Arg
NM_133378.4:c.84257A>G (TTN) NP_596869.4:p.His28086Arg
NM_133432.3:c.65141A>G (TTN) NP_597676.3:p.His21714Arg
NM_133437.4:c.65342A>G (TTN) NP_597681.4:p.His21781Arg
NR_038271.1:n.447-21539T>C (TTN-AS1)
NR_038272.1:n.2043+7400T>C (TTN-AS1)
XM_011511729.1:c.91058A>G (TTN) XP_011510031.1:p.His30353Arg
XM_011511730.1:c.64952A>G (TTN) XP_011510032.1:p.His21651Arg
XM_011511731.1:c.64811A>G (TTN) XP_011510033.1:p.His21604Arg
XM_017004819.1:c.90854A>G (TTN) XP_016860308.1:p.His30285Arg
XM_017004820.1:c.86252A>G (TTN) XP_016860309.1:p.His28751Arg
XM_017004821.1:c.86249A>G (TTN) XP_016860310.1:p.His28750Arg
XM_017004822.1:c.83291A>G (TTN) XP_016860311.1:p.His27764Arg
XM_017004823.1:c.64907A>G (TTN) XP_016860312.1:p.His21636Arg
XM_024453094.1:c.86402A>G (TTN) XP_024308862.1:p.His28801Arg
XM_024453095.1:c.86399A>G (TTN) XP_024308863.1:p.His28800Arg
XM_024453096.1:c.85832A>G (TTN) XP_024308864.1:p.His28611Arg
XM_024453097.1:c.83174A>G (TTN) XP_024308865.1:p.His27725Arg
XM_024453098.1:c.83093A>G (TTN) XP_024308866.1:p.His27698Arg
XM_024453099.1:c.64856A>G (TTN) XP_024308867.1:p.His21619Arg
XM_024453100.1:c.54710A>G (TTN) XP_024308868.1:p.His18237Arg