Canonical Allele Identifier: CA349483525

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52913A>C (TTN) ENSP00000343764.6:p.Asn17638Thr
ENST00000342175.11:c.33998A>C (TTN) ENSP00000340554.6:p.Asn11333Thr
ENST00000359218.10:c.33797A>C (TTN) ENSP00000352154.5:p.Asn11266Thr
ENST00000342175.10:c.33998A>C (TTN) ENSP00000340554.6:p.Asn11333Thr
ENST00000342992.10:c.52913A>C (TTN) ENSP00000343764.6:p.Asn17638Thr
ENST00000359218.9:c.33797A>C (TTN) ENSP00000352154.5:p.Asn11266Thr
ENST00000460472.6:c.33422A>C (TTN) ENSP00000434586.1:p.Asn11141Thr
ENST00000589042.5:c.60617A>C (TTN) MANE Select ENSP00000467141.1:p.Asn20206Thr
ENST00000591111.5:c.55694A>C (TTN) ENSP00000465570.1:p.Asn18565Thr
ENST00000615779.4:c.55694A>C (TTN) ENSP00000483597.1:p.Asn18565Thr
NM_001256850.1:c.55694A>C (TTN) NP_001243779.1:p.Asn18565Thr
NM_001267550.2:c.60617A>C (TTN) MANE Select NP_001254479.2:p.Asn20206Thr
NM_003319.4:c.33422A>C (TTN) NP_003310.4:p.Asn11141Thr
NM_133378.4:c.52913A>C (TTN) NP_596869.4:p.Asn17638Thr
NM_133432.3:c.33797A>C (TTN) NP_597676.3:p.Asn11266Thr
NM_133437.4:c.33998A>C (TTN) NP_597681.4:p.Asn11333Thr
NR_038271.1:n.597-6488T>G (TTN-AS1)
NR_038272.1:n.3189-31T>G (TTN-AS1)
XM_011511729.1:c.59714A>C (TTN) XP_011510031.1:p.Asn19905Thr
XM_011511730.1:c.33608A>C (TTN) XP_011510032.1:p.Asn11203Thr
XM_011511731.1:c.33467A>C (TTN) XP_011510033.1:p.Asn11156Thr
XM_017004819.1:c.59510A>C (TTN) XP_016860308.1:p.Asn19837Thr
XM_017004820.1:c.54908A>C (TTN) XP_016860309.1:p.Asn18303Thr
XM_017004821.1:c.54905A>C (TTN) XP_016860310.1:p.Asn18302Thr
XM_017004822.1:c.51947A>C (TTN) XP_016860311.1:p.Asn17316Thr
XM_017004823.1:c.33563A>C (TTN) XP_016860312.1:p.Asn11188Thr
XM_024453094.1:c.55058A>C (TTN) XP_024308862.1:p.Asn18353Thr
XM_024453095.1:c.55055A>C (TTN) XP_024308863.1:p.Asn18352Thr
XM_024453096.1:c.54488A>C (TTN) XP_024308864.1:p.Asn18163Thr
XM_024453097.1:c.51830A>C (TTN) XP_024308865.1:p.Asn17277Thr
XM_024453098.1:c.51749A>C (TTN) XP_024308866.1:p.Asn17250Thr
XM_024453099.1:c.33512A>C (TTN) XP_024308867.1:p.Asn11171Thr
XM_024453100.1:c.23366A>C (TTN) XP_024308868.1:p.Asn7789Thr