Canonical Allele Identifier: CA349427855

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537600T>C , CM000664.2:g.178537600T>C GRCh38
NC_000002.11:g.179402327T>C , CM000664.1:g.179402327T>C GRCh37
NC_000002.10:g.179110573T>C NCBI36
NG_011618.3:g.298203A>G , LRG_391:g.298203A>G
NG_051363.1:g.19774T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.91903A>G (TTN) ENSP00000343764.6:p.Lys30635Glu
ENST00000342175.11:c.72988A>G (TTN) ENSP00000340554.6:p.Lys24330Glu
ENST00000359218.10:c.72787A>G (TTN) ENSP00000352154.5:p.Lys24263Glu
ENST00000342175.10:c.72988A>G (TTN) ENSP00000340554.6:p.Lys24330Glu
ENST00000342992.10:c.91903A>G (TTN) ENSP00000343764.6:p.Lys30635Glu
ENST00000359218.9:c.72787A>G (TTN) ENSP00000352154.5:p.Lys24263Glu
ENST00000460472.6:c.72412A>G (TTN) ENSP00000434586.1:p.Lys24138Glu
ENST00000589042.5:c.99607A>G (TTN) MANE Select ENSP00000467141.1:p.Lys33203Glu
ENST00000591111.5:c.94684A>G (TTN) ENSP00000465570.1:p.Lys31562Glu
ENST00000615779.4:c.94684A>G (TTN) ENSP00000483597.1:p.Lys31562Glu
NM_001256850.1:c.94684A>G (TTN) NP_001243779.1:p.Lys31562Glu
NM_001267550.2:c.99607A>G (TTN) MANE Select NP_001254479.2:p.Lys33203Glu
NM_003319.4:c.72412A>G (TTN) NP_003310.4:p.Lys24138Glu
NM_133378.4:c.91903A>G (TTN) NP_596869.4:p.Lys30635Glu
NM_133432.3:c.72787A>G (TTN) NP_597676.3:p.Lys24263Glu
NM_133437.4:c.72988A>G (TTN) NP_597681.4:p.Lys24330Glu
NR_038271.1:n.446+13964T>C (TTN-AS1)
NR_038272.1:n.556T>C (TTN-AS1)
XM_011511729.1:c.98704A>G (TTN) XP_011510031.1:p.Lys32902Glu
XM_011511730.1:c.72598A>G (TTN) XP_011510032.1:p.Lys24200Glu
XM_011511731.1:c.72457A>G (TTN) XP_011510033.1:p.Lys24153Glu
XM_017004819.1:c.98500A>G (TTN) XP_016860308.1:p.Lys32834Glu
XM_017004820.1:c.93898A>G (TTN) XP_016860309.1:p.Lys31300Glu
XM_017004821.1:c.93895A>G (TTN) XP_016860310.1:p.Lys31299Glu
XM_017004822.1:c.90937A>G (TTN) XP_016860311.1:p.Lys30313Glu
XM_017004823.1:c.72553A>G (TTN) XP_016860312.1:p.Lys24185Glu
XM_024453094.1:c.94048A>G (TTN) XP_024308862.1:p.Lys31350Glu
XM_024453095.1:c.94045A>G (TTN) XP_024308863.1:p.Lys31349Glu
XM_024453096.1:c.93478A>G (TTN) XP_024308864.1:p.Lys31160Glu
XM_024453097.1:c.90820A>G (TTN) XP_024308865.1:p.Lys30274Glu
XM_024453098.1:c.90739A>G (TTN) XP_024308866.1:p.Lys30247Glu
XM_024453099.1:c.72502A>G (TTN) XP_024308867.1:p.Lys24168Glu
XM_024453100.1:c.62356A>G (TTN) XP_024308868.1:p.Lys20786Glu