Canonical Allele Identifier: CA349449118
Community Standard Title: NM_001267550.2(TTN):c.63793+1G>A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178587515C>T , CM000664.2:g.178587515C>T GRCh38
NC_000002.11:g.179452242C>T , CM000664.1:g.179452242C>T GRCh37
NC_000002.10:g.179160488C>T NCBI36
NG_011618.3:g.248288G>A , LRG_391:g.248288G>A
NG_051363.1:g.69689C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.63793+1G>A (TTN) MANE Select NP_001254479.2:n.63793+1G>A
ENST00000589042.5:c.63793+1G>A (TTN) MANE Select ENSP00000467141.1:n.63793+1G>A
NM_001256850.1:c.58870+1G>A (TTN) NP_001243779.1:n.58870+1G>A
NM_003319.4:c.36598+1G>A (TTN) NP_003310.4:n.36598+1G>A
NM_133378.4:c.56089+1G>A (TTN) NP_596869.4:n.56089+1G>A
NM_133432.3:c.36973+1G>A (TTN) NP_597676.3:n.36973+1G>A
NM_133437.4:c.37174+1G>A (TTN) NP_597681.4:n.37174+1G>A
NR_038271.1:n.597-10081C>T (TTN-AS1)
NR_038272.1:n.3188+2522C>T (TTN-AS1)
ENST00000342175.10:c.37174+1G>A (TTN) ENSP00000340554.6:n.37174+1G>A
ENST00000342175.11:c.37174+1G>A (TTN) ENSP00000340554.6:n.37174+1G>A
ENST00000342992.10:c.56089+1G>A (TTN) ENSP00000343764.6:n.56089+1G>A
ENST00000342992.11:c.56089+1G>A (TTN) ENSP00000343764.6:n.56089+1G>A
ENST00000359218.10:c.36973+1G>A (TTN) ENSP00000352154.5:n.36973+1G>A
ENST00000359218.9:c.36973+1G>A (TTN) ENSP00000352154.5:n.36973+1G>A
ENST00000460472.6:c.36598+1G>A (TTN) ENSP00000434586.1:n.36598+1G>A
ENST00000591111.5:c.58870+1G>A (TTN) ENSP00000465570.1:n.58870+1G>A
ENST00000615779.4:c.58870+1G>A (TTN) ENSP00000483597.1:n.58870+1G>A
XM_011511729.1:c.62890+1G>A (TTN) XP_011510031.1:n.62890+1G>A
XM_011511730.1:c.36784+1G>A (TTN) XP_011510032.1:n.36784+1G>A
XM_011511731.1:c.36643+1G>A (TTN) XP_011510033.1:n.36643+1G>A
XM_017004819.1:c.62686+1G>A (TTN) XP_016860308.1:n.62686+1G>A
XM_017004820.1:c.58084+1G>A (TTN) XP_016860309.1:n.58084+1G>A
XM_017004821.1:c.58081+1G>A (TTN) XP_016860310.1:n.58081+1G>A
XM_017004822.1:c.55123+1G>A (TTN) XP_016860311.1:n.55123+1G>A
XM_017004823.1:c.36739+1G>A (TTN) XP_016860312.1:n.36739+1G>A
XM_024453094.1:c.58234+1G>A (TTN) XP_024308862.1:n.58234+1G>A
XM_024453095.1:c.58231+1G>A (TTN) XP_024308863.1:n.58231+1G>A
XM_024453096.1:c.57664+1G>A (TTN) XP_024308864.1:n.57664+1G>A
XM_024453097.1:c.55006+1G>A (TTN) XP_024308865.1:n.55006+1G>A
XM_024453098.1:c.54925+1G>A (TTN) XP_024308866.1:n.54925+1G>A
XM_024453099.1:c.36688+1G>A (TTN) XP_024308867.1:n.36688+1G>A
XM_024453100.1:c.26542+1G>A (TTN) XP_024308868.1:n.26542+1G>A