Canonical Allele Identifier: CA349647770

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573866T>A , CM000664.2:g.178573866T>A GRCh38
NC_000002.11:g.179438593T>A , CM000664.1:g.179438593T>A GRCh37
NC_000002.10:g.179146839T>A NCBI36
NG_011618.3:g.261937A>T , LRG_391:g.261937A>T
NG_051363.1:g.56040T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64562A>T (TTN) ENSP00000343764.6:p.Asn21521Ile
ENST00000342175.11:c.45647A>T (TTN) ENSP00000340554.6:p.Asn15216Ile
ENST00000359218.10:c.45446A>T (TTN) ENSP00000352154.5:p.Asn15149Ile
ENST00000342175.10:c.45647A>T (TTN) ENSP00000340554.6:p.Asn15216Ile
ENST00000342992.10:c.64562A>T (TTN) ENSP00000343764.6:p.Asn21521Ile
ENST00000359218.9:c.45446A>T (TTN) ENSP00000352154.5:p.Asn15149Ile
ENST00000460472.6:c.45071A>T (TTN) ENSP00000434586.1:p.Asn15024Ile
ENST00000589042.5:c.72266A>T (TTN) MANE Select ENSP00000467141.1:p.Asn24089Ile
ENST00000591111.5:c.67343A>T (TTN) ENSP00000465570.1:p.Asn22448Ile
ENST00000615779.4:c.67343A>T (TTN) ENSP00000483597.1:p.Asn22448Ile
NM_001256850.1:c.67343A>T (TTN) NP_001243779.1:p.Asn22448Ile
NM_001267550.2:c.72266A>T (TTN) MANE Select NP_001254479.2:p.Asn24089Ile
NM_003319.4:c.45071A>T (TTN) NP_003310.4:p.Asn15024Ile
NM_133378.4:c.64562A>T (TTN) NP_596869.4:p.Asn21521Ile
NM_133432.3:c.45446A>T (TTN) NP_597676.3:p.Asn15149Ile
NM_133437.4:c.45647A>T (TTN) NP_597681.4:p.Asn15216Ile
NR_038271.1:n.596+2417T>A (TTN-AS1)
NR_038272.1:n.2044-8706T>A (TTN-AS1)
XM_011511729.1:c.71363A>T (TTN) XP_011510031.1:p.Asn23788Ile
XM_011511730.1:c.45257A>T (TTN) XP_011510032.1:p.Asn15086Ile
XM_011511731.1:c.45116A>T (TTN) XP_011510033.1:p.Asn15039Ile
XM_017004819.1:c.71159A>T (TTN) XP_016860308.1:p.Asn23720Ile
XM_017004820.1:c.66557A>T (TTN) XP_016860309.1:p.Asn22186Ile
XM_017004821.1:c.66554A>T (TTN) XP_016860310.1:p.Asn22185Ile
XM_017004822.1:c.63596A>T (TTN) XP_016860311.1:p.Asn21199Ile
XM_017004823.1:c.45212A>T (TTN) XP_016860312.1:p.Asn15071Ile
XM_024453094.1:c.66707A>T (TTN) XP_024308862.1:p.Asn22236Ile
XM_024453095.1:c.66704A>T (TTN) XP_024308863.1:p.Asn22235Ile
XM_024453096.1:c.66137A>T (TTN) XP_024308864.1:p.Asn22046Ile
XM_024453097.1:c.63479A>T (TTN) XP_024308865.1:p.Asn21160Ile
XM_024453098.1:c.63398A>T (TTN) XP_024308866.1:p.Asn21133Ile
XM_024453099.1:c.45161A>T (TTN) XP_024308867.1:p.Asn15054Ile
XM_024453100.1:c.35015A>T (TTN) XP_024308868.1:p.Asn11672Ile