Canonical Allele Identifier: CA349479375

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178590920A>T , CM000664.2:g.178590920A>T GRCh38
NC_000002.11:g.179455647A>T , CM000664.1:g.179455647A>T GRCh37
NC_000002.10:g.179163893A>T NCBI36
NG_011618.3:g.244883T>A , LRG_391:g.244883T>A
NG_051363.1:g.73094A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.53101T>A (TTN) ENSP00000343764.6:p.Phe17701Ile
ENST00000342175.11:c.34186T>A (TTN) ENSP00000340554.6:p.Phe11396Ile
ENST00000359218.10:c.33985T>A (TTN) ENSP00000352154.5:p.Phe11329Ile
ENST00000342175.10:c.34186T>A (TTN) ENSP00000340554.6:p.Phe11396Ile
ENST00000342992.10:c.53101T>A (TTN) ENSP00000343764.6:p.Phe17701Ile
ENST00000359218.9:c.33985T>A (TTN) ENSP00000352154.5:p.Phe11329Ile
ENST00000460472.6:c.33610T>A (TTN) ENSP00000434586.1:p.Phe11204Ile
ENST00000589042.5:c.60805T>A (TTN) MANE Select ENSP00000467141.1:p.Phe20269Ile
ENST00000591111.5:c.55882T>A (TTN) ENSP00000465570.1:p.Phe18628Ile
ENST00000615779.4:c.55882T>A (TTN) ENSP00000483597.1:p.Phe18628Ile
NM_001256850.1:c.55882T>A (TTN) NP_001243779.1:p.Phe18628Ile
NM_001267550.2:c.60805T>A (TTN) MANE Select NP_001254479.2:p.Phe20269Ile
NM_003319.4:c.33610T>A (TTN) NP_003310.4:p.Phe11204Ile
NM_133378.4:c.53101T>A (TTN) NP_596869.4:p.Phe17701Ile
NM_133432.3:c.33985T>A (TTN) NP_597676.3:p.Phe11329Ile
NM_133437.4:c.34186T>A (TTN) NP_597681.4:p.Phe11396Ile
NR_038271.1:n.597-6676A>T (TTN-AS1)
NR_038272.1:n.3189-219A>T (TTN-AS1)
XM_011511729.1:c.59902T>A (TTN) XP_011510031.1:p.Phe19968Ile
XM_011511730.1:c.33796T>A (TTN) XP_011510032.1:p.Phe11266Ile
XM_011511731.1:c.33655T>A (TTN) XP_011510033.1:p.Phe11219Ile
XM_017004819.1:c.59698T>A (TTN) XP_016860308.1:p.Phe19900Ile
XM_017004820.1:c.55096T>A (TTN) XP_016860309.1:p.Phe18366Ile
XM_017004821.1:c.55093T>A (TTN) XP_016860310.1:p.Phe18365Ile
XM_017004822.1:c.52135T>A (TTN) XP_016860311.1:p.Phe17379Ile
XM_017004823.1:c.33751T>A (TTN) XP_016860312.1:p.Phe11251Ile
XM_024453094.1:c.55246T>A (TTN) XP_024308862.1:p.Phe18416Ile
XM_024453095.1:c.55243T>A (TTN) XP_024308863.1:p.Phe18415Ile
XM_024453096.1:c.54676T>A (TTN) XP_024308864.1:p.Phe18226Ile
XM_024453097.1:c.52018T>A (TTN) XP_024308865.1:p.Phe17340Ile
XM_024453098.1:c.51937T>A (TTN) XP_024308866.1:p.Phe17313Ile
XM_024453099.1:c.33700T>A (TTN) XP_024308867.1:p.Phe11234Ile
XM_024453100.1:c.23554T>A (TTN) XP_024308868.1:p.Phe7852Ile