Canonical Allele Identifier: CA349435441

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584476A>C , CM000664.2:g.178584476A>C GRCh38
NC_000002.11:g.179449203A>C , CM000664.1:g.179449203A>C GRCh37
NC_000002.10:g.179157449A>C NCBI36
NG_011618.3:g.251327T>G , LRG_391:g.251327T>G
NG_051363.1:g.66650A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57371T>G (TTN) ENSP00000343764.6:p.Ile19124Ser
ENST00000342175.11:c.38456T>G (TTN) ENSP00000340554.6:p.Ile12819Ser
ENST00000359218.10:c.38255T>G (TTN) ENSP00000352154.5:p.Ile12752Ser
ENST00000342175.10:c.38456T>G (TTN) ENSP00000340554.6:p.Ile12819Ser
ENST00000342992.10:c.57371T>G (TTN) ENSP00000343764.6:p.Ile19124Ser
ENST00000359218.9:c.38255T>G (TTN) ENSP00000352154.5:p.Ile12752Ser
ENST00000460472.6:c.37880T>G (TTN) ENSP00000434586.1:p.Ile12627Ser
ENST00000589042.5:c.65075T>G (TTN) MANE Select ENSP00000467141.1:p.Ile21692Ser
ENST00000591111.5:c.60152T>G (TTN) ENSP00000465570.1:p.Ile20051Ser
ENST00000615779.4:c.60152T>G (TTN) ENSP00000483597.1:p.Ile20051Ser
NM_001256850.1:c.60152T>G (TTN) NP_001243779.1:p.Ile20051Ser
NM_001267550.2:c.65075T>G (TTN) MANE Select NP_001254479.2:p.Ile21692Ser
NM_003319.4:c.37880T>G (TTN) NP_003310.4:p.Ile12627Ser
NM_133378.4:c.57371T>G (TTN) NP_596869.4:p.Ile19124Ser
NM_133432.3:c.38255T>G (TTN) NP_597676.3:p.Ile12752Ser
NM_133437.4:c.38456T>G (TTN) NP_597681.4:p.Ile12819Ser
NR_038271.1:n.596+13027A>C (TTN-AS1)
NR_038272.1:n.2768-97A>C (TTN-AS1)
XM_011511729.1:c.64172T>G (TTN) XP_011510031.1:p.Ile21391Ser
XM_011511730.1:c.38066T>G (TTN) XP_011510032.1:p.Ile12689Ser
XM_011511731.1:c.37925T>G (TTN) XP_011510033.1:p.Ile12642Ser
XM_017004819.1:c.63968T>G (TTN) XP_016860308.1:p.Ile21323Ser
XM_017004820.1:c.59366T>G (TTN) XP_016860309.1:p.Ile19789Ser
XM_017004821.1:c.59363T>G (TTN) XP_016860310.1:p.Ile19788Ser
XM_017004822.1:c.56405T>G (TTN) XP_016860311.1:p.Ile18802Ser
XM_017004823.1:c.38021T>G (TTN) XP_016860312.1:p.Ile12674Ser
XM_024453094.1:c.59516T>G (TTN) XP_024308862.1:p.Ile19839Ser
XM_024453095.1:c.59513T>G (TTN) XP_024308863.1:p.Ile19838Ser
XM_024453096.1:c.58946T>G (TTN) XP_024308864.1:p.Ile19649Ser
XM_024453097.1:c.56288T>G (TTN) XP_024308865.1:p.Ile18763Ser
XM_024453098.1:c.56207T>G (TTN) XP_024308866.1:p.Ile18736Ser
XM_024453099.1:c.37970T>G (TTN) XP_024308867.1:p.Ile12657Ser
XM_024453100.1:c.27824T>G (TTN) XP_024308868.1:p.Ile9275Ser