Canonical Allele Identifier: CA349483518

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52913A>G (TTN) ENSP00000343764.6:p.Asn17638Ser
ENST00000342175.11:c.33998A>G (TTN) ENSP00000340554.6:p.Asn11333Ser
ENST00000359218.10:c.33797A>G (TTN) ENSP00000352154.5:p.Asn11266Ser
ENST00000342175.10:c.33998A>G (TTN) ENSP00000340554.6:p.Asn11333Ser
ENST00000342992.10:c.52913A>G (TTN) ENSP00000343764.6:p.Asn17638Ser
ENST00000359218.9:c.33797A>G (TTN) ENSP00000352154.5:p.Asn11266Ser
ENST00000460472.6:c.33422A>G (TTN) ENSP00000434586.1:p.Asn11141Ser
ENST00000589042.5:c.60617A>G (TTN) MANE Select ENSP00000467141.1:p.Asn20206Ser
ENST00000591111.5:c.55694A>G (TTN) ENSP00000465570.1:p.Asn18565Ser
ENST00000615779.4:c.55694A>G (TTN) ENSP00000483597.1:p.Asn18565Ser
NM_001256850.1:c.55694A>G (TTN) NP_001243779.1:p.Asn18565Ser
NM_001267550.2:c.60617A>G (TTN) MANE Select NP_001254479.2:p.Asn20206Ser
NM_003319.4:c.33422A>G (TTN) NP_003310.4:p.Asn11141Ser
NM_133378.4:c.52913A>G (TTN) NP_596869.4:p.Asn17638Ser
NM_133432.3:c.33797A>G (TTN) NP_597676.3:p.Asn11266Ser
NM_133437.4:c.33998A>G (TTN) NP_597681.4:p.Asn11333Ser
NR_038271.1:n.597-6488T>C (TTN-AS1)
NR_038272.1:n.3189-31T>C (TTN-AS1)
XM_011511729.1:c.59714A>G (TTN) XP_011510031.1:p.Asn19905Ser
XM_011511730.1:c.33608A>G (TTN) XP_011510032.1:p.Asn11203Ser
XM_011511731.1:c.33467A>G (TTN) XP_011510033.1:p.Asn11156Ser
XM_017004819.1:c.59510A>G (TTN) XP_016860308.1:p.Asn19837Ser
XM_017004820.1:c.54908A>G (TTN) XP_016860309.1:p.Asn18303Ser
XM_017004821.1:c.54905A>G (TTN) XP_016860310.1:p.Asn18302Ser
XM_017004822.1:c.51947A>G (TTN) XP_016860311.1:p.Asn17316Ser
XM_017004823.1:c.33563A>G (TTN) XP_016860312.1:p.Asn11188Ser
XM_024453094.1:c.55058A>G (TTN) XP_024308862.1:p.Asn18353Ser
XM_024453095.1:c.55055A>G (TTN) XP_024308863.1:p.Asn18352Ser
XM_024453096.1:c.54488A>G (TTN) XP_024308864.1:p.Asn18163Ser
XM_024453097.1:c.51830A>G (TTN) XP_024308865.1:p.Asn17277Ser
XM_024453098.1:c.51749A>G (TTN) XP_024308866.1:p.Asn17250Ser
XM_024453099.1:c.33512A>G (TTN) XP_024308867.1:p.Asn11171Ser
XM_024453100.1:c.23366A>G (TTN) XP_024308868.1:p.Asn7789Ser