Canonical Allele Identifier: CA349442953
Community Standard Title: NM_001267550.2(TTN):c.64193T>A (p.Ile21398Asn)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.64193T>A (TTN) MANE Select NP_001254479.2:p.Ile21398Asn
ENST00000589042.5:c.64193T>A (TTN) MANE Select ENSP00000467141.1:p.Ile21398Asn
NM_001256850.1:c.59270T>A (TTN) NP_001243779.1:p.Ile19757Asn
NM_003319.4:c.36998T>A (TTN) NP_003310.4:p.Ile12333Asn
NM_133378.4:c.56489T>A (TTN) NP_596869.4:p.Ile18830Asn
NM_133432.3:c.37373T>A (TTN) NP_597676.3:p.Ile12458Asn
NM_133437.4:c.37574T>A (TTN) NP_597681.4:p.Ile12525Asn
NR_038271.1:n.597-10888A>T (TTN-AS1)
NR_038272.1:n.3188+1715A>T (TTN-AS1)
ENST00000342175.10:c.37574T>A (TTN) ENSP00000340554.6:p.Ile12525Asn
ENST00000342175.11:c.37574T>A (TTN) ENSP00000340554.6:p.Ile12525Asn
ENST00000342992.10:c.56489T>A (TTN) ENSP00000343764.6:p.Ile18830Asn
ENST00000342992.11:c.56489T>A (TTN) ENSP00000343764.6:p.Ile18830Asn
ENST00000359218.10:c.37373T>A (TTN) ENSP00000352154.5:p.Ile12458Asn
ENST00000359218.9:c.37373T>A (TTN) ENSP00000352154.5:p.Ile12458Asn
ENST00000460472.6:c.36998T>A (TTN) ENSP00000434586.1:p.Ile12333Asn
ENST00000591111.5:c.59270T>A (TTN) ENSP00000465570.1:p.Ile19757Asn
ENST00000615779.4:c.59270T>A (TTN) ENSP00000483597.1:p.Ile19757Asn
XM_011511729.1:c.63290T>A (TTN) XP_011510031.1:p.Ile21097Asn
XM_011511730.1:c.37184T>A (TTN) XP_011510032.1:p.Ile12395Asn
XM_011511731.1:c.37043T>A (TTN) XP_011510033.1:p.Ile12348Asn
XM_017004819.1:c.63086T>A (TTN) XP_016860308.1:p.Ile21029Asn
XM_017004820.1:c.58484T>A (TTN) XP_016860309.1:p.Ile19495Asn
XM_017004821.1:c.58481T>A (TTN) XP_016860310.1:p.Ile19494Asn
XM_017004822.1:c.55523T>A (TTN) XP_016860311.1:p.Ile18508Asn
XM_017004823.1:c.37139T>A (TTN) XP_016860312.1:p.Ile12380Asn
XM_024453094.1:c.58634T>A (TTN) XP_024308862.1:p.Ile19545Asn
XM_024453095.1:c.58631T>A (TTN) XP_024308863.1:p.Ile19544Asn
XM_024453096.1:c.58064T>A (TTN) XP_024308864.1:p.Ile19355Asn
XM_024453097.1:c.55406T>A (TTN) XP_024308865.1:p.Ile18469Asn
XM_024453098.1:c.55325T>A (TTN) XP_024308866.1:p.Ile18442Asn
XM_024453099.1:c.37088T>A (TTN) XP_024308867.1:p.Ile12363Asn
XM_024453100.1:c.26942T>A (TTN) XP_024308868.1:p.Ile8981Asn