Canonical Allele Identifier: CA349417063

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533965T>C , CM000664.2:g.178533965T>C GRCh38
NC_000002.11:g.179398692T>C , CM000664.1:g.179398692T>C GRCh37
NC_000002.10:g.179106938T>C NCBI36
NG_011618.3:g.301838A>G , LRG_391:g.301838A>G
NG_051363.1:g.16139T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.94946A>G (TTN) ENSP00000343764.6:p.Glu31649Gly
ENST00000342175.11:c.76031A>G (TTN) ENSP00000340554.6:p.Glu25344Gly
ENST00000359218.10:c.75830A>G (TTN) ENSP00000352154.5:p.Glu25277Gly
ENST00000342175.10:c.76031A>G (TTN) ENSP00000340554.6:p.Glu25344Gly
ENST00000342992.10:c.94946A>G (TTN) ENSP00000343764.6:p.Glu31649Gly
ENST00000359218.9:c.75830A>G (TTN) ENSP00000352154.5:p.Glu25277Gly
ENST00000460472.6:c.75455A>G (TTN) ENSP00000434586.1:p.Glu25152Gly
ENST00000589042.5:c.102650A>G (TTN) MANE Select ENSP00000467141.1:p.Glu34217Gly
ENST00000591111.5:c.97727A>G (TTN) ENSP00000465570.1:p.Glu32576Gly
ENST00000615779.4:c.97727A>G (TTN) ENSP00000483597.1:p.Glu32576Gly
NM_001256850.1:c.97727A>G (TTN) NP_001243779.1:p.Glu32576Gly
NM_001267550.2:c.102650A>G (TTN) MANE Select NP_001254479.2:p.Glu34217Gly
NM_003319.4:c.75455A>G (TTN) NP_003310.4:p.Glu25152Gly
NM_133378.4:c.94946A>G (TTN) NP_596869.4:p.Glu31649Gly
NM_133432.3:c.75830A>G (TTN) NP_597676.3:p.Glu25277Gly
NM_133437.4:c.76031A>G (TTN) NP_597681.4:p.Glu25344Gly
NR_038271.1:n.446+10329T>C (TTN-AS1)
NR_038272.1:n.220-1767T>C (TTN-AS1)
XM_011511729.1:c.101747A>G (TTN) XP_011510031.1:p.Glu33916Gly
XM_011511730.1:c.75641A>G (TTN) XP_011510032.1:p.Glu25214Gly
XM_011511731.1:c.75500A>G (TTN) XP_011510033.1:p.Glu25167Gly
XM_017004819.1:c.101543A>G (TTN) XP_016860308.1:p.Glu33848Gly
XM_017004820.1:c.96941A>G (TTN) XP_016860309.1:p.Glu32314Gly
XM_017004821.1:c.96938A>G (TTN) XP_016860310.1:p.Glu32313Gly
XM_017004822.1:c.93980A>G (TTN) XP_016860311.1:p.Glu31327Gly
XM_017004823.1:c.75596A>G (TTN) XP_016860312.1:p.Glu25199Gly
XM_024453094.1:c.97091A>G (TTN) XP_024308862.1:p.Glu32364Gly
XM_024453095.1:c.97088A>G (TTN) XP_024308863.1:p.Glu32363Gly
XM_024453096.1:c.96521A>G (TTN) XP_024308864.1:p.Glu32174Gly
XM_024453097.1:c.93863A>G (TTN) XP_024308865.1:p.Glu31288Gly
XM_024453098.1:c.93782A>G (TTN) XP_024308866.1:p.Glu31261Gly
XM_024453099.1:c.75545A>G (TTN) XP_024308867.1:p.Glu25182Gly
XM_024453100.1:c.65399A>G (TTN) XP_024308868.1:p.Glu21800Gly