Canonical Allele Identifier: CA349480189

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591028T>A , CM000664.2:g.178591028T>A GRCh38
NC_000002.11:g.179455755T>A , CM000664.1:g.179455755T>A GRCh37
NC_000002.10:g.179164001T>A NCBI36
NG_011618.3:g.244775A>T , LRG_391:g.244775A>T
NG_051363.1:g.73202T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52993A>T (TTN) ENSP00000343764.6:p.Ile17665Phe
ENST00000342175.11:c.34078A>T (TTN) ENSP00000340554.6:p.Ile11360Phe
ENST00000359218.10:c.33877A>T (TTN) ENSP00000352154.5:p.Ile11293Phe
ENST00000342175.10:c.34078A>T (TTN) ENSP00000340554.6:p.Ile11360Phe
ENST00000342992.10:c.52993A>T (TTN) ENSP00000343764.6:p.Ile17665Phe
ENST00000359218.9:c.33877A>T (TTN) ENSP00000352154.5:p.Ile11293Phe
ENST00000460472.6:c.33502A>T (TTN) ENSP00000434586.1:p.Ile11168Phe
ENST00000589042.5:c.60697A>T (TTN) MANE Select ENSP00000467141.1:p.Ile20233Phe
ENST00000591111.5:c.55774A>T (TTN) ENSP00000465570.1:p.Ile18592Phe
ENST00000615779.4:c.55774A>T (TTN) ENSP00000483597.1:p.Ile18592Phe
NM_001256850.1:c.55774A>T (TTN) NP_001243779.1:p.Ile18592Phe
NM_001267550.2:c.60697A>T (TTN) MANE Select NP_001254479.2:p.Ile20233Phe
NM_003319.4:c.33502A>T (TTN) NP_003310.4:p.Ile11168Phe
NM_133378.4:c.52993A>T (TTN) NP_596869.4:p.Ile17665Phe
NM_133432.3:c.33877A>T (TTN) NP_597676.3:p.Ile11293Phe
NM_133437.4:c.34078A>T (TTN) NP_597681.4:p.Ile11360Phe
NR_038271.1:n.597-6568T>A (TTN-AS1)
NR_038272.1:n.3189-111T>A (TTN-AS1)
XM_011511729.1:c.59794A>T (TTN) XP_011510031.1:p.Ile19932Phe
XM_011511730.1:c.33688A>T (TTN) XP_011510032.1:p.Ile11230Phe
XM_011511731.1:c.33547A>T (TTN) XP_011510033.1:p.Ile11183Phe
XM_017004819.1:c.59590A>T (TTN) XP_016860308.1:p.Ile19864Phe
XM_017004820.1:c.54988A>T (TTN) XP_016860309.1:p.Ile18330Phe
XM_017004821.1:c.54985A>T (TTN) XP_016860310.1:p.Ile18329Phe
XM_017004822.1:c.52027A>T (TTN) XP_016860311.1:p.Ile17343Phe
XM_017004823.1:c.33643A>T (TTN) XP_016860312.1:p.Ile11215Phe
XM_024453094.1:c.55138A>T (TTN) XP_024308862.1:p.Ile18380Phe
XM_024453095.1:c.55135A>T (TTN) XP_024308863.1:p.Ile18379Phe
XM_024453096.1:c.54568A>T (TTN) XP_024308864.1:p.Ile18190Phe
XM_024453097.1:c.51910A>T (TTN) XP_024308865.1:p.Ile17304Phe
XM_024453098.1:c.51829A>T (TTN) XP_024308866.1:p.Ile17277Phe
XM_024453099.1:c.33592A>T (TTN) XP_024308867.1:p.Ile11198Phe
XM_024453100.1:c.23446A>T (TTN) XP_024308868.1:p.Ile7816Phe