Canonical Allele Identifier: CA349456141

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544323T>G , CM000664.2:g.178544323T>G GRCh38
NC_000002.11:g.179409050T>G , CM000664.1:g.179409050T>G GRCh37
NC_000002.10:g.179117296T>G NCBI36
NG_011618.3:g.291480A>C , LRG_391:g.291480A>C
NG_051363.1:g.26497T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88202A>C (TTN) ENSP00000343764.6:p.Glu29401Ala
ENST00000342175.11:c.69287A>C (TTN) ENSP00000340554.6:p.Glu23096Ala
ENST00000359218.10:c.69086A>C (TTN) ENSP00000352154.5:p.Glu23029Ala
ENST00000342175.10:c.69287A>C (TTN) ENSP00000340554.6:p.Glu23096Ala
ENST00000342992.10:c.88202A>C (TTN) ENSP00000343764.6:p.Glu29401Ala
ENST00000359218.9:c.69086A>C (TTN) ENSP00000352154.5:p.Glu23029Ala
ENST00000460472.6:c.68711A>C (TTN) ENSP00000434586.1:p.Glu22904Ala
ENST00000589042.5:c.95906A>C (TTN) MANE Select ENSP00000467141.1:p.Glu31969Ala
ENST00000591111.5:c.90983A>C (TTN) ENSP00000465570.1:p.Glu30328Ala
ENST00000615779.4:c.90983A>C (TTN) ENSP00000483597.1:p.Glu30328Ala
NM_001256850.1:c.90983A>C (TTN) NP_001243779.1:p.Glu30328Ala
NM_001267550.2:c.95906A>C (TTN) MANE Select NP_001254479.2:p.Glu31969Ala
NM_003319.4:c.68711A>C (TTN) NP_003310.4:p.Glu22904Ala
NM_133378.4:c.88202A>C (TTN) NP_596869.4:p.Glu29401Ala
NM_133432.3:c.69086A>C (TTN) NP_597676.3:p.Glu23029Ala
NM_133437.4:c.69287A>C (TTN) NP_597681.4:p.Glu23096Ala
NR_038271.1:n.446+20687T>G (TTN-AS1)
NR_038272.1:n.2043+1962T>G (TTN-AS1)
XM_011511729.1:c.95003A>C (TTN) XP_011510031.1:p.Glu31668Ala
XM_011511730.1:c.68897A>C (TTN) XP_011510032.1:p.Glu22966Ala
XM_011511731.1:c.68756A>C (TTN) XP_011510033.1:p.Glu22919Ala
XM_017004819.1:c.94799A>C (TTN) XP_016860308.1:p.Glu31600Ala
XM_017004820.1:c.90197A>C (TTN) XP_016860309.1:p.Glu30066Ala
XM_017004821.1:c.90194A>C (TTN) XP_016860310.1:p.Glu30065Ala
XM_017004822.1:c.87236A>C (TTN) XP_016860311.1:p.Glu29079Ala
XM_017004823.1:c.68852A>C (TTN) XP_016860312.1:p.Glu22951Ala
XM_024453094.1:c.90347A>C (TTN) XP_024308862.1:p.Glu30116Ala
XM_024453095.1:c.90344A>C (TTN) XP_024308863.1:p.Glu30115Ala
XM_024453096.1:c.89777A>C (TTN) XP_024308864.1:p.Glu29926Ala
XM_024453097.1:c.87119A>C (TTN) XP_024308865.1:p.Glu29040Ala
XM_024453098.1:c.87038A>C (TTN) XP_024308866.1:p.Glu29013Ala
XM_024453099.1:c.68801A>C (TTN) XP_024308867.1:p.Glu22934Ala
XM_024453100.1:c.58655A>C (TTN) XP_024308868.1:p.Glu19552Ala