Canonical Allele Identifier: CA349608099

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614755T>A , CM000664.2:g.178614755T>A GRCh38
NC_000002.11:g.179479482T>A , CM000664.1:g.179479482T>A GRCh37
NC_000002.10:g.179187727T>A NCBI36
NG_011618.3:g.221048A>T , LRG_391:g.221048A>T
NG_051363.1:g.96929T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41057-2A>T (TTN) ENSP00000343764.6:n.41057-2A>T
ENST00000342175.11:c.22142-2A>T (TTN) ENSP00000340554.6:n.22142-2A>T
ENST00000359218.10:c.21941-2A>T (TTN) ENSP00000352154.5:n.21941-2A>T
ENST00000342175.10:c.22142-2A>T (TTN) ENSP00000340554.6:n.22142-2A>T
ENST00000342992.10:c.41057-2A>T (TTN) ENSP00000343764.6:n.41057-2A>T
ENST00000359218.9:c.21941-2A>T (TTN) ENSP00000352154.5:n.21941-2A>T
ENST00000460472.6:c.21566-2A>T (TTN) ENSP00000434586.1:n.21566-2A>T
ENST00000589042.5:c.48761-2A>T (TTN) MANE Select ENSP00000467141.1:n.48761-2A>T
ENST00000591111.5:c.43838-2A>T (TTN) ENSP00000465570.1:n.43838-2A>T
ENST00000615779.4:c.43838-2A>T (TTN) ENSP00000483597.1:n.43838-2A>T
NM_001256850.1:c.43838-2A>T (TTN) NP_001243779.1:n.43838-2A>T
NM_001267550.2:c.48761-2A>T (TTN) MANE Select NP_001254479.2:n.48761-2A>T
NM_003319.4:c.21566-2A>T (TTN) NP_003310.4:n.21566-2A>T
NM_133378.4:c.41057-2A>T (TTN) NP_596869.4:n.41057-2A>T
NM_133432.3:c.21941-2A>T (TTN) NP_597676.3:n.21941-2A>T
NM_133437.4:c.22142-2A>T (TTN) NP_597681.4:n.22142-2A>T
NR_038271.1:n.1503T>A (TTN-AS1)
XM_011511729.1:c.47858-2A>T (TTN) XP_011510031.1:n.47858-2A>T
XM_011511730.1:c.21752-2A>T (TTN) XP_011510032.1:n.21752-2A>T
XM_011511731.1:c.21611-2A>T (TTN) XP_011510033.1:n.21611-2A>T
XM_017004819.1:c.47654-2A>T (TTN) XP_016860308.1:n.47654-2A>T
XM_017004820.1:c.43052-2A>T (TTN) XP_016860309.1:n.43052-2A>T
XM_017004821.1:c.43049-2A>T (TTN) XP_016860310.1:n.43049-2A>T
XM_017004822.1:c.40091-2A>T (TTN) XP_016860311.1:n.40091-2A>T
XM_017004823.1:c.21707-2A>T (TTN) XP_016860312.1:n.21707-2A>T
XM_024453094.1:c.43202-2A>T (TTN) XP_024308862.1:n.43202-2A>T
XM_024453095.1:c.43199-2A>T (TTN) XP_024308863.1:n.43199-2A>T
XM_024453096.1:c.42632-2A>T (TTN) XP_024308864.1:n.42632-2A>T
XM_024453097.1:c.39974-2A>T (TTN) XP_024308865.1:n.39974-2A>T
XM_024453098.1:c.39893-2A>T (TTN) XP_024308866.1:n.39893-2A>T
XM_024453099.1:c.21656-2A>T (TTN) XP_024308867.1:n.21656-2A>T
XM_024453100.1:c.11510-2A>T (TTN) XP_024308868.1:n.11510-2A>T