Canonical Allele Identifier: CA2577170531

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557637G>T , CM000664.2:g.178557637G>T GRCh38
NC_000002.11:g.179422364G>T , CM000664.1:g.179422364G>T GRCh37
NC_000002.10:g.179130610G>T NCBI36
NG_011618.3:g.278166C>A , LRG_391:g.278166C>A
NG_051363.1:g.39811G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.80002+11C>A (TTN) ENSP00000343764.6:n.80002+11C>A
ENST00000342175.11:c.61087+11C>A (TTN) ENSP00000340554.6:n.61087+11C>A
ENST00000359218.10:c.60886+11C>A (TTN) ENSP00000352154.5:n.60886+11C>A
ENST00000342175.10:c.61087+11C>A (TTN) ENSP00000340554.6:n.61087+11C>A
ENST00000342992.10:c.80002+11C>A (TTN) ENSP00000343764.6:n.80002+11C>A
ENST00000359218.9:c.60886+11C>A (TTN) ENSP00000352154.5:n.60886+11C>A
ENST00000460472.6:c.60511+11C>A (TTN) ENSP00000434586.1:n.60511+11C>A
ENST00000589042.5:c.87706+11C>A (TTN) MANE Select ENSP00000467141.1:n.87706+11C>A
ENST00000591111.5:c.82783+11C>A (TTN) ENSP00000465570.1:n.82783+11C>A
ENST00000615779.4:c.82783+11C>A (TTN) ENSP00000483597.1:n.82783+11C>A
NM_001256850.1:c.82783+11C>A (TTN) NP_001243779.1:n.82783+11C>A
NM_001267550.2:c.87706+11C>A (TTN) MANE Select NP_001254479.2:n.87706+11C>A
NM_003319.4:c.60511+11C>A (TTN) NP_003310.4:n.60511+11C>A
NM_133378.4:c.80002+11C>A (TTN) NP_596869.4:n.80002+11C>A
NM_133432.3:c.60886+11C>A (TTN) NP_597676.3:n.60886+11C>A
NM_133437.4:c.61087+11C>A (TTN) NP_597681.4:n.61087+11C>A
NR_038271.1:n.447-13663G>T (TTN-AS1)
NR_038272.1:n.2043+15276G>T (TTN-AS1)
XM_011511729.1:c.86803+11C>A (TTN) XP_011510031.1:n.86803+11C>A
XM_011511730.1:c.60697+11C>A (TTN) XP_011510032.1:n.60697+11C>A
XM_011511731.1:c.60556+11C>A (TTN) XP_011510033.1:n.60556+11C>A
XM_017004819.1:c.86599+11C>A (TTN) XP_016860308.1:n.86599+11C>A
XM_017004820.1:c.81997+11C>A (TTN) XP_016860309.1:n.81997+11C>A
XM_017004821.1:c.81994+11C>A (TTN) XP_016860310.1:n.81994+11C>A
XM_017004822.1:c.79036+11C>A (TTN) XP_016860311.1:n.79036+11C>A
XM_017004823.1:c.60652+11C>A (TTN) XP_016860312.1:n.60652+11C>A
XM_024453094.1:c.82147+11C>A (TTN) XP_024308862.1:n.82147+11C>A
XM_024453095.1:c.82144+11C>A (TTN) XP_024308863.1:n.82144+11C>A
XM_024453096.1:c.81577+11C>A (TTN) XP_024308864.1:n.81577+11C>A
XM_024453097.1:c.78919+11C>A (TTN) XP_024308865.1:n.78919+11C>A
XM_024453098.1:c.78838+11C>A (TTN) XP_024308866.1:n.78838+11C>A
XM_024453099.1:c.60601+11C>A (TTN) XP_024308867.1:n.60601+11C>A
XM_024453100.1:c.50455+11C>A (TTN) XP_024308868.1:n.50455+11C>A