Canonical Allele Identifier: CA1310515538

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537597C= , CM000664.2:g.178537597C= GRCh38
NC_000002.11:g.179402324C= , CM000664.1:g.179402324C= GRCh37
NC_000002.10:g.179110570C= NCBI36
NG_011618.3:g.298206G= , LRG_391:g.298206G=
NG_051363.1:g.19771C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.91906G= (TTN) ENSP00000343764.6:p.Glu30636=
ENST00000342175.11:c.72991G= (TTN) ENSP00000340554.6:p.Glu24331=
ENST00000359218.10:c.72790G= (TTN) ENSP00000352154.5:p.Glu24264=
ENST00000342175.10:c.72991G= (TTN) ENSP00000340554.6:p.Glu24331=
ENST00000342992.10:c.91906G= (TTN) ENSP00000343764.6:p.Glu30636=
ENST00000359218.9:c.72790G= (TTN) ENSP00000352154.5:p.Glu24264=
ENST00000460472.6:c.72415G= (TTN) ENSP00000434586.1:p.Glu24139=
ENST00000589042.5:c.99610G= (TTN) MANE Select ENSP00000467141.1:p.Glu33204=
ENST00000591111.5:c.94687G= (TTN) ENSP00000465570.1:p.Glu31563=
ENST00000615779.4:c.94687G= (TTN) ENSP00000483597.1:p.Glu31563=
NM_001256850.1:c.94687G= (TTN) NP_001243779.1:p.Glu31563=
NM_001267550.2:c.99610G= (TTN) MANE Select NP_001254479.2:p.Glu33204=
NM_003319.4:c.72415G= (TTN) NP_003310.4:p.Glu24139=
NM_133378.4:c.91906G= (TTN) NP_596869.4:p.Glu30636=
NM_133432.3:c.72790G= (TTN) NP_597676.3:p.Glu24264=
NM_133437.4:c.72991G= (TTN) NP_597681.4:p.Glu24331=
NR_038271.1:n.446+13961C= (TTN-AS1)
NR_038272.1:n.553C= (TTN-AS1)
XM_011511729.1:c.98707G= (TTN) XP_011510031.1:p.Glu32903=
XM_011511730.1:c.72601G= (TTN) XP_011510032.1:p.Glu24201=
XM_011511731.1:c.72460G= (TTN) XP_011510033.1:p.Glu24154=
XM_017004819.1:c.98503G= (TTN) XP_016860308.1:p.Glu32835=
XM_017004820.1:c.93901G= (TTN) XP_016860309.1:p.Glu31301=
XM_017004821.1:c.93898G= (TTN) XP_016860310.1:p.Glu31300=
XM_017004822.1:c.90940G= (TTN) XP_016860311.1:p.Glu30314=
XM_017004823.1:c.72556G= (TTN) XP_016860312.1:p.Glu24186=
XM_024453094.1:c.94051G= (TTN) XP_024308862.1:p.Glu31351=
XM_024453095.1:c.94048G= (TTN) XP_024308863.1:p.Glu31350=
XM_024453096.1:c.93481G= (TTN) XP_024308864.1:p.Glu31161=
XM_024453097.1:c.90823G= (TTN) XP_024308865.1:p.Glu30275=
XM_024453098.1:c.90742G= (TTN) XP_024308866.1:p.Glu30248=
XM_024453099.1:c.72505G= (TTN) XP_024308867.1:p.Glu24169=
XM_024453100.1:c.62359G= (TTN) XP_024308868.1:p.Glu20787=