Canonical Allele Identifier: CA349455054

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544224T>C , CM000664.2:g.178544224T>C GRCh38
NC_000002.11:g.179408951T>C , CM000664.1:g.179408951T>C GRCh37
NC_000002.10:g.179117197T>C NCBI36
NG_011618.3:g.291579A>G , LRG_391:g.291579A>G
NG_051363.1:g.26398T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88301A>G (TTN) ENSP00000343764.6:p.Glu29434Gly
ENST00000342175.11:c.69386A>G (TTN) ENSP00000340554.6:p.Glu23129Gly
ENST00000359218.10:c.69185A>G (TTN) ENSP00000352154.5:p.Glu23062Gly
ENST00000342175.10:c.69386A>G (TTN) ENSP00000340554.6:p.Glu23129Gly
ENST00000342992.10:c.88301A>G (TTN) ENSP00000343764.6:p.Glu29434Gly
ENST00000359218.9:c.69185A>G (TTN) ENSP00000352154.5:p.Glu23062Gly
ENST00000460472.6:c.68810A>G (TTN) ENSP00000434586.1:p.Glu22937Gly
ENST00000589042.5:c.96005A>G (TTN) MANE Select ENSP00000467141.1:p.Glu32002Gly
ENST00000591111.5:c.91082A>G (TTN) ENSP00000465570.1:p.Glu30361Gly
ENST00000615779.4:c.91082A>G (TTN) ENSP00000483597.1:p.Glu30361Gly
NM_001256850.1:c.91082A>G (TTN) NP_001243779.1:p.Glu30361Gly
NM_001267550.2:c.96005A>G (TTN) MANE Select NP_001254479.2:p.Glu32002Gly
NM_003319.4:c.68810A>G (TTN) NP_003310.4:p.Glu22937Gly
NM_133378.4:c.88301A>G (TTN) NP_596869.4:p.Glu29434Gly
NM_133432.3:c.69185A>G (TTN) NP_597676.3:p.Glu23062Gly
NM_133437.4:c.69386A>G (TTN) NP_597681.4:p.Glu23129Gly
NR_038271.1:n.446+20588T>C (TTN-AS1)
NR_038272.1:n.2043+1863T>C (TTN-AS1)
XM_011511729.1:c.95102A>G (TTN) XP_011510031.1:p.Glu31701Gly
XM_011511730.1:c.68996A>G (TTN) XP_011510032.1:p.Glu22999Gly
XM_011511731.1:c.68855A>G (TTN) XP_011510033.1:p.Glu22952Gly
XM_017004819.1:c.94898A>G (TTN) XP_016860308.1:p.Glu31633Gly
XM_017004820.1:c.90296A>G (TTN) XP_016860309.1:p.Glu30099Gly
XM_017004821.1:c.90293A>G (TTN) XP_016860310.1:p.Glu30098Gly
XM_017004822.1:c.87335A>G (TTN) XP_016860311.1:p.Glu29112Gly
XM_017004823.1:c.68951A>G (TTN) XP_016860312.1:p.Glu22984Gly
XM_024453094.1:c.90446A>G (TTN) XP_024308862.1:p.Glu30149Gly
XM_024453095.1:c.90443A>G (TTN) XP_024308863.1:p.Glu30148Gly
XM_024453096.1:c.89876A>G (TTN) XP_024308864.1:p.Glu29959Gly
XM_024453097.1:c.87218A>G (TTN) XP_024308865.1:p.Glu29073Gly
XM_024453098.1:c.87137A>G (TTN) XP_024308866.1:p.Glu29046Gly
XM_024453099.1:c.68900A>G (TTN) XP_024308867.1:p.Glu22967Gly
XM_024453100.1:c.58754A>G (TTN) XP_024308868.1:p.Glu19585Gly