Canonical Allele Identifier: CA184091
Community Standard Title: NM_001267550.2(TTN):c.64193T>G (p.Ile21398Ser)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178586708A>C , CM000664.2:g.178586708A>C GRCh38
NC_000002.11:g.179451435A>C , CM000664.1:g.179451435A>C GRCh37
NC_000002.10:g.179159681A>C NCBI36
NG_011618.3:g.249095T>G , LRG_391:g.249095T>G
NG_051363.1:g.68882A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.64193T>G (TTN) MANE Select NP_001254479.2:p.Ile21398Ser
ENST00000589042.5:c.64193T>G (TTN) MANE Select ENSP00000467141.1:p.Ile21398Ser
NM_001256850.1:c.59270T>G (TTN) NP_001243779.1:p.Ile19757Ser
NM_003319.4:c.36998T>G (TTN) NP_003310.4:p.Ile12333Ser
NM_133378.4:c.56489T>G (TTN) NP_596869.4:p.Ile18830Ser
NM_133432.3:c.37373T>G (TTN) NP_597676.3:p.Ile12458Ser
NM_133437.4:c.37574T>G (TTN) NP_597681.4:p.Ile12525Ser
NR_038271.1:n.597-10888A>C (TTN-AS1)
NR_038272.1:n.3188+1715A>C (TTN-AS1)
ENST00000342175.10:c.37574T>G (TTN) ENSP00000340554.6:p.Ile12525Ser
ENST00000342175.11:c.37574T>G (TTN) ENSP00000340554.6:p.Ile12525Ser
ENST00000342992.10:c.56489T>G (TTN) ENSP00000343764.6:p.Ile18830Ser
ENST00000342992.11:c.56489T>G (TTN) ENSP00000343764.6:p.Ile18830Ser
ENST00000359218.10:c.37373T>G (TTN) ENSP00000352154.5:p.Ile12458Ser
ENST00000359218.9:c.37373T>G (TTN) ENSP00000352154.5:p.Ile12458Ser
ENST00000460472.6:c.36998T>G (TTN) ENSP00000434586.1:p.Ile12333Ser
ENST00000591111.5:c.59270T>G (TTN) ENSP00000465570.1:p.Ile19757Ser
ENST00000615779.4:c.59270T>G (TTN) ENSP00000483597.1:p.Ile19757Ser
XM_011511729.1:c.63290T>G (TTN) XP_011510031.1:p.Ile21097Ser
XM_011511730.1:c.37184T>G (TTN) XP_011510032.1:p.Ile12395Ser
XM_011511731.1:c.37043T>G (TTN) XP_011510033.1:p.Ile12348Ser
XM_017004819.1:c.63086T>G (TTN) XP_016860308.1:p.Ile21029Ser
XM_017004820.1:c.58484T>G (TTN) XP_016860309.1:p.Ile19495Ser
XM_017004821.1:c.58481T>G (TTN) XP_016860310.1:p.Ile19494Ser
XM_017004822.1:c.55523T>G (TTN) XP_016860311.1:p.Ile18508Ser
XM_017004823.1:c.37139T>G (TTN) XP_016860312.1:p.Ile12380Ser
XM_024453094.1:c.58634T>G (TTN) XP_024308862.1:p.Ile19545Ser
XM_024453095.1:c.58631T>G (TTN) XP_024308863.1:p.Ile19544Ser
XM_024453096.1:c.58064T>G (TTN) XP_024308864.1:p.Ile19355Ser
XM_024453097.1:c.55406T>G (TTN) XP_024308865.1:p.Ile18469Ser
XM_024453098.1:c.55325T>G (TTN) XP_024308866.1:p.Ile18442Ser
XM_024453099.1:c.37088T>G (TTN) XP_024308867.1:p.Ile12363Ser
XM_024453100.1:c.26942T>G (TTN) XP_024308868.1:p.Ile8981Ser