Canonical Allele Identifier: CA349417061

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533964T>G , CM000664.2:g.178533964T>G GRCh38
NC_000002.11:g.179398691T>G , CM000664.1:g.179398691T>G GRCh37
NC_000002.10:g.179106937T>G NCBI36
NG_011618.3:g.301839A>C , LRG_391:g.301839A>C
NG_051363.1:g.16138T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.94947A>C (TTN) ENSP00000343764.6:p.Glu31649Asp
ENST00000342175.11:c.76032A>C (TTN) ENSP00000340554.6:p.Glu25344Asp
ENST00000359218.10:c.75831A>C (TTN) ENSP00000352154.5:p.Glu25277Asp
ENST00000342175.10:c.76032A>C (TTN) ENSP00000340554.6:p.Glu25344Asp
ENST00000342992.10:c.94947A>C (TTN) ENSP00000343764.6:p.Glu31649Asp
ENST00000359218.9:c.75831A>C (TTN) ENSP00000352154.5:p.Glu25277Asp
ENST00000460472.6:c.75456A>C (TTN) ENSP00000434586.1:p.Glu25152Asp
ENST00000589042.5:c.102651A>C (TTN) MANE Select ENSP00000467141.1:p.Glu34217Asp
ENST00000591111.5:c.97728A>C (TTN) ENSP00000465570.1:p.Glu32576Asp
ENST00000615779.4:c.97728A>C (TTN) ENSP00000483597.1:p.Glu32576Asp
NM_001256850.1:c.97728A>C (TTN) NP_001243779.1:p.Glu32576Asp
NM_001267550.2:c.102651A>C (TTN) MANE Select NP_001254479.2:p.Glu34217Asp
NM_003319.4:c.75456A>C (TTN) NP_003310.4:p.Glu25152Asp
NM_133378.4:c.94947A>C (TTN) NP_596869.4:p.Glu31649Asp
NM_133432.3:c.75831A>C (TTN) NP_597676.3:p.Glu25277Asp
NM_133437.4:c.76032A>C (TTN) NP_597681.4:p.Glu25344Asp
NR_038271.1:n.446+10328T>G (TTN-AS1)
NR_038272.1:n.220-1768T>G (TTN-AS1)
XM_011511729.1:c.101748A>C (TTN) XP_011510031.1:p.Glu33916Asp
XM_011511730.1:c.75642A>C (TTN) XP_011510032.1:p.Glu25214Asp
XM_011511731.1:c.75501A>C (TTN) XP_011510033.1:p.Glu25167Asp
XM_017004819.1:c.101544A>C (TTN) XP_016860308.1:p.Glu33848Asp
XM_017004820.1:c.96942A>C (TTN) XP_016860309.1:p.Glu32314Asp
XM_017004821.1:c.96939A>C (TTN) XP_016860310.1:p.Glu32313Asp
XM_017004822.1:c.93981A>C (TTN) XP_016860311.1:p.Glu31327Asp
XM_017004823.1:c.75597A>C (TTN) XP_016860312.1:p.Glu25199Asp
XM_024453094.1:c.97092A>C (TTN) XP_024308862.1:p.Glu32364Asp
XM_024453095.1:c.97089A>C (TTN) XP_024308863.1:p.Glu32363Asp
XM_024453096.1:c.96522A>C (TTN) XP_024308864.1:p.Glu32174Asp
XM_024453097.1:c.93864A>C (TTN) XP_024308865.1:p.Glu31288Asp
XM_024453098.1:c.93783A>C (TTN) XP_024308866.1:p.Glu31261Asp
XM_024453099.1:c.75546A>C (TTN) XP_024308867.1:p.Glu25182Asp
XM_024453100.1:c.65400A>C (TTN) XP_024308868.1:p.Glu21800Asp