Canonical Allele Identifier: CA349532918
Community Standard Title: NM_001267550.2(TTN):c.56347+1G>A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178599553C>T , CM000664.2:g.178599553C>T GRCh38
NC_000002.11:g.179464280C>T , CM000664.1:g.179464280C>T GRCh37
NC_000002.10:g.179172525C>T NCBI36
NG_011618.3:g.236250G>A , LRG_391:g.236250G>A
NG_051363.1:g.81727C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.56347+1G>A (TTN) MANE Select NP_001254479.2:n.56347+1G>A
ENST00000589042.5:c.56347+1G>A (TTN) MANE Select ENSP00000467141.1:n.56347+1G>A
NM_001256850.1:c.51424+1G>A (TTN) NP_001243779.1:n.51424+1G>A
NM_003319.4:c.29152+1G>A (TTN) NP_003310.4:n.29152+1G>A
NM_133378.4:c.48643+1G>A (TTN) NP_596869.4:n.48643+1G>A
NM_133432.3:c.29527+1G>A (TTN) NP_597676.3:n.29527+1G>A
NM_133437.4:c.29728+1G>A (TTN) NP_597681.4:n.29728+1G>A
NR_038271.1:n.682+1872C>T (TTN-AS1)
NR_038272.1:n.3569-41C>T (TTN-AS1)
ENST00000342175.10:c.29728+1G>A (TTN) ENSP00000340554.6:n.29728+1G>A
ENST00000342175.11:c.29728+1G>A (TTN) ENSP00000340554.6:n.29728+1G>A
ENST00000342992.10:c.48643+1G>A (TTN) ENSP00000343764.6:n.48643+1G>A
ENST00000342992.11:c.48643+1G>A (TTN) ENSP00000343764.6:n.48643+1G>A
ENST00000359218.10:c.29527+1G>A (TTN) ENSP00000352154.5:n.29527+1G>A
ENST00000359218.9:c.29527+1G>A (TTN) ENSP00000352154.5:n.29527+1G>A
ENST00000460472.6:c.29152+1G>A (TTN) ENSP00000434586.1:n.29152+1G>A
ENST00000591111.5:c.51424+1G>A (TTN) ENSP00000465570.1:n.51424+1G>A
ENST00000615779.4:c.51424+1G>A (TTN) ENSP00000483597.1:n.51424+1G>A
XM_011511729.1:c.55444+1G>A (TTN) XP_011510031.1:n.55444+1G>A
XM_011511730.1:c.29338+1G>A (TTN) XP_011510032.1:n.29338+1G>A
XM_011511731.1:c.29197+1G>A (TTN) XP_011510033.1:n.29197+1G>A
XM_017004819.1:c.55240+1G>A (TTN) XP_016860308.1:n.55240+1G>A
XM_017004820.1:c.50638+1G>A (TTN) XP_016860309.1:n.50638+1G>A
XM_017004821.1:c.50635+1G>A (TTN) XP_016860310.1:n.50635+1G>A
XM_017004822.1:c.47677+1G>A (TTN) XP_016860311.1:n.47677+1G>A
XM_017004823.1:c.29293+1G>A (TTN) XP_016860312.1:n.29293+1G>A
XM_024453094.1:c.50788+1G>A (TTN) XP_024308862.1:n.50788+1G>A
XM_024453095.1:c.50785+1G>A (TTN) XP_024308863.1:n.50785+1G>A
XM_024453096.1:c.50218+1G>A (TTN) XP_024308864.1:n.50218+1G>A
XM_024453097.1:c.47560+1G>A (TTN) XP_024308865.1:n.47560+1G>A
XM_024453098.1:c.47479+1G>A (TTN) XP_024308866.1:n.47479+1G>A
XM_024453099.1:c.29242+1G>A (TTN) XP_024308867.1:n.29242+1G>A
XM_024453100.1:c.19096+1G>A (TTN) XP_024308868.1:n.19096+1G>A