Canonical Allele Identifier: CA349483542

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591109T>C , CM000664.2:g.178591109T>C GRCh38
NC_000002.11:g.179455836T>C , CM000664.1:g.179455836T>C GRCh37
NC_000002.10:g.179164082T>C NCBI36
NG_011618.3:g.244694A>G , LRG_391:g.244694A>G
NG_051363.1:g.73283T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52912A>G (TTN) ENSP00000343764.6:p.Asn17638Asp
ENST00000342175.11:c.33997A>G (TTN) ENSP00000340554.6:p.Asn11333Asp
ENST00000359218.10:c.33796A>G (TTN) ENSP00000352154.5:p.Asn11266Asp
ENST00000342175.10:c.33997A>G (TTN) ENSP00000340554.6:p.Asn11333Asp
ENST00000342992.10:c.52912A>G (TTN) ENSP00000343764.6:p.Asn17638Asp
ENST00000359218.9:c.33796A>G (TTN) ENSP00000352154.5:p.Asn11266Asp
ENST00000460472.6:c.33421A>G (TTN) ENSP00000434586.1:p.Asn11141Asp
ENST00000589042.5:c.60616A>G (TTN) MANE Select ENSP00000467141.1:p.Asn20206Asp
ENST00000591111.5:c.55693A>G (TTN) ENSP00000465570.1:p.Asn18565Asp
ENST00000615779.4:c.55693A>G (TTN) ENSP00000483597.1:p.Asn18565Asp
NM_001256850.1:c.55693A>G (TTN) NP_001243779.1:p.Asn18565Asp
NM_001267550.2:c.60616A>G (TTN) MANE Select NP_001254479.2:p.Asn20206Asp
NM_003319.4:c.33421A>G (TTN) NP_003310.4:p.Asn11141Asp
NM_133378.4:c.52912A>G (TTN) NP_596869.4:p.Asn17638Asp
NM_133432.3:c.33796A>G (TTN) NP_597676.3:p.Asn11266Asp
NM_133437.4:c.33997A>G (TTN) NP_597681.4:p.Asn11333Asp
NR_038271.1:n.597-6487T>C (TTN-AS1)
NR_038272.1:n.3189-30T>C (TTN-AS1)
XM_011511729.1:c.59713A>G (TTN) XP_011510031.1:p.Asn19905Asp
XM_011511730.1:c.33607A>G (TTN) XP_011510032.1:p.Asn11203Asp
XM_011511731.1:c.33466A>G (TTN) XP_011510033.1:p.Asn11156Asp
XM_017004819.1:c.59509A>G (TTN) XP_016860308.1:p.Asn19837Asp
XM_017004820.1:c.54907A>G (TTN) XP_016860309.1:p.Asn18303Asp
XM_017004821.1:c.54904A>G (TTN) XP_016860310.1:p.Asn18302Asp
XM_017004822.1:c.51946A>G (TTN) XP_016860311.1:p.Asn17316Asp
XM_017004823.1:c.33562A>G (TTN) XP_016860312.1:p.Asn11188Asp
XM_024453094.1:c.55057A>G (TTN) XP_024308862.1:p.Asn18353Asp
XM_024453095.1:c.55054A>G (TTN) XP_024308863.1:p.Asn18352Asp
XM_024453096.1:c.54487A>G (TTN) XP_024308864.1:p.Asn18163Asp
XM_024453097.1:c.51829A>G (TTN) XP_024308865.1:p.Asn17277Asp
XM_024453098.1:c.51748A>G (TTN) XP_024308866.1:p.Asn17250Asp
XM_024453099.1:c.33511A>G (TTN) XP_024308867.1:p.Asn11171Asp
XM_024453100.1:c.23365A>G (TTN) XP_024308868.1:p.Asn7789Asp