Canonical Allele Identifier: CA349483514

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591108T>A , CM000664.2:g.178591108T>A GRCh38
NC_000002.11:g.179455835T>A , CM000664.1:g.179455835T>A GRCh37
NC_000002.10:g.179164081T>A NCBI36
NG_011618.3:g.244695A>T , LRG_391:g.244695A>T
NG_051363.1:g.73282T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52913A>T (TTN) ENSP00000343764.6:p.Asn17638Ile
ENST00000342175.11:c.33998A>T (TTN) ENSP00000340554.6:p.Asn11333Ile
ENST00000359218.10:c.33797A>T (TTN) ENSP00000352154.5:p.Asn11266Ile
ENST00000342175.10:c.33998A>T (TTN) ENSP00000340554.6:p.Asn11333Ile
ENST00000342992.10:c.52913A>T (TTN) ENSP00000343764.6:p.Asn17638Ile
ENST00000359218.9:c.33797A>T (TTN) ENSP00000352154.5:p.Asn11266Ile
ENST00000460472.6:c.33422A>T (TTN) ENSP00000434586.1:p.Asn11141Ile
ENST00000589042.5:c.60617A>T (TTN) MANE Select ENSP00000467141.1:p.Asn20206Ile
ENST00000591111.5:c.55694A>T (TTN) ENSP00000465570.1:p.Asn18565Ile
ENST00000615779.4:c.55694A>T (TTN) ENSP00000483597.1:p.Asn18565Ile
NM_001256850.1:c.55694A>T (TTN) NP_001243779.1:p.Asn18565Ile
NM_001267550.2:c.60617A>T (TTN) MANE Select NP_001254479.2:p.Asn20206Ile
NM_003319.4:c.33422A>T (TTN) NP_003310.4:p.Asn11141Ile
NM_133378.4:c.52913A>T (TTN) NP_596869.4:p.Asn17638Ile
NM_133432.3:c.33797A>T (TTN) NP_597676.3:p.Asn11266Ile
NM_133437.4:c.33998A>T (TTN) NP_597681.4:p.Asn11333Ile
NR_038271.1:n.597-6488T>A (TTN-AS1)
NR_038272.1:n.3189-31T>A (TTN-AS1)
XM_011511729.1:c.59714A>T (TTN) XP_011510031.1:p.Asn19905Ile
XM_011511730.1:c.33608A>T (TTN) XP_011510032.1:p.Asn11203Ile
XM_011511731.1:c.33467A>T (TTN) XP_011510033.1:p.Asn11156Ile
XM_017004819.1:c.59510A>T (TTN) XP_016860308.1:p.Asn19837Ile
XM_017004820.1:c.54908A>T (TTN) XP_016860309.1:p.Asn18303Ile
XM_017004821.1:c.54905A>T (TTN) XP_016860310.1:p.Asn18302Ile
XM_017004822.1:c.51947A>T (TTN) XP_016860311.1:p.Asn17316Ile
XM_017004823.1:c.33563A>T (TTN) XP_016860312.1:p.Asn11188Ile
XM_024453094.1:c.55058A>T (TTN) XP_024308862.1:p.Asn18353Ile
XM_024453095.1:c.55055A>T (TTN) XP_024308863.1:p.Asn18352Ile
XM_024453096.1:c.54488A>T (TTN) XP_024308864.1:p.Asn18163Ile
XM_024453097.1:c.51830A>T (TTN) XP_024308865.1:p.Asn17277Ile
XM_024453098.1:c.51749A>T (TTN) XP_024308866.1:p.Asn17250Ile
XM_024453099.1:c.33512A>T (TTN) XP_024308867.1:p.Asn11171Ile
XM_024453100.1:c.23366A>T (TTN) XP_024308868.1:p.Asn7789Ile