Canonical Allele Identifier: CA349647808

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573875T>A , CM000664.2:g.178573875T>A GRCh38
NC_000002.11:g.179438602T>A , CM000664.1:g.179438602T>A GRCh37
NC_000002.10:g.179146848T>A NCBI36
NG_011618.3:g.261928A>T , LRG_391:g.261928A>T
NG_051363.1:g.56049T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64553A>T (TTN) ENSP00000343764.6:p.Asn21518Ile
ENST00000342175.11:c.45638A>T (TTN) ENSP00000340554.6:p.Asn15213Ile
ENST00000359218.10:c.45437A>T (TTN) ENSP00000352154.5:p.Asn15146Ile
ENST00000342175.10:c.45638A>T (TTN) ENSP00000340554.6:p.Asn15213Ile
ENST00000342992.10:c.64553A>T (TTN) ENSP00000343764.6:p.Asn21518Ile
ENST00000359218.9:c.45437A>T (TTN) ENSP00000352154.5:p.Asn15146Ile
ENST00000460472.6:c.45062A>T (TTN) ENSP00000434586.1:p.Asn15021Ile
ENST00000589042.5:c.72257A>T (TTN) MANE Select ENSP00000467141.1:p.Asn24086Ile
ENST00000591111.5:c.67334A>T (TTN) ENSP00000465570.1:p.Asn22445Ile
ENST00000615779.4:c.67334A>T (TTN) ENSP00000483597.1:p.Asn22445Ile
NM_001256850.1:c.67334A>T (TTN) NP_001243779.1:p.Asn22445Ile
NM_001267550.2:c.72257A>T (TTN) MANE Select NP_001254479.2:p.Asn24086Ile
NM_003319.4:c.45062A>T (TTN) NP_003310.4:p.Asn15021Ile
NM_133378.4:c.64553A>T (TTN) NP_596869.4:p.Asn21518Ile
NM_133432.3:c.45437A>T (TTN) NP_597676.3:p.Asn15146Ile
NM_133437.4:c.45638A>T (TTN) NP_597681.4:p.Asn15213Ile
NR_038271.1:n.596+2426T>A (TTN-AS1)
NR_038272.1:n.2044-8697T>A (TTN-AS1)
XM_011511729.1:c.71354A>T (TTN) XP_011510031.1:p.Asn23785Ile
XM_011511730.1:c.45248A>T (TTN) XP_011510032.1:p.Asn15083Ile
XM_011511731.1:c.45107A>T (TTN) XP_011510033.1:p.Asn15036Ile
XM_017004819.1:c.71150A>T (TTN) XP_016860308.1:p.Asn23717Ile
XM_017004820.1:c.66548A>T (TTN) XP_016860309.1:p.Asn22183Ile
XM_017004821.1:c.66545A>T (TTN) XP_016860310.1:p.Asn22182Ile
XM_017004822.1:c.63587A>T (TTN) XP_016860311.1:p.Asn21196Ile
XM_017004823.1:c.45203A>T (TTN) XP_016860312.1:p.Asn15068Ile
XM_024453094.1:c.66698A>T (TTN) XP_024308862.1:p.Asn22233Ile
XM_024453095.1:c.66695A>T (TTN) XP_024308863.1:p.Asn22232Ile
XM_024453096.1:c.66128A>T (TTN) XP_024308864.1:p.Asn22043Ile
XM_024453097.1:c.63470A>T (TTN) XP_024308865.1:p.Asn21157Ile
XM_024453098.1:c.63389A>T (TTN) XP_024308866.1:p.Asn21130Ile
XM_024453099.1:c.45152A>T (TTN) XP_024308867.1:p.Asn15051Ile
XM_024453100.1:c.35006A>T (TTN) XP_024308868.1:p.Asn11669Ile