Canonical Allele Identifier: CA349504015

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551836T>G , CM000664.2:g.178551836T>G GRCh38
NC_000002.11:g.179416563T>G , CM000664.1:g.179416563T>G GRCh37
NC_000002.10:g.179124809T>G NCBI36
NG_011618.3:g.283967A>C , LRG_391:g.283967A>C
NG_051363.1:g.34010T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83360A>C (TTN) ENSP00000343764.6:p.Glu27787Ala
ENST00000342175.11:c.64445A>C (TTN) ENSP00000340554.6:p.Glu21482Ala
ENST00000359218.10:c.64244A>C (TTN) ENSP00000352154.5:p.Glu21415Ala
ENST00000342175.10:c.64445A>C (TTN) ENSP00000340554.6:p.Glu21482Ala
ENST00000342992.10:c.83360A>C (TTN) ENSP00000343764.6:p.Glu27787Ala
ENST00000359218.9:c.64244A>C (TTN) ENSP00000352154.5:p.Glu21415Ala
ENST00000460472.6:c.63869A>C (TTN) ENSP00000434586.1:p.Glu21290Ala
ENST00000589042.5:c.91064A>C (TTN) MANE Select ENSP00000467141.1:p.Glu30355Ala
ENST00000591111.5:c.86141A>C (TTN) ENSP00000465570.1:p.Glu28714Ala
ENST00000615779.4:c.86141A>C (TTN) ENSP00000483597.1:p.Glu28714Ala
NM_001256850.1:c.86141A>C (TTN) NP_001243779.1:p.Glu28714Ala
NM_001267550.2:c.91064A>C (TTN) MANE Select NP_001254479.2:p.Glu30355Ala
NM_003319.4:c.63869A>C (TTN) NP_003310.4:p.Glu21290Ala
NM_133378.4:c.83360A>C (TTN) NP_596869.4:p.Glu27787Ala
NM_133432.3:c.64244A>C (TTN) NP_597676.3:p.Glu21415Ala
NM_133437.4:c.64445A>C (TTN) NP_597681.4:p.Glu21482Ala
NR_038271.1:n.447-19464T>G (TTN-AS1)
NR_038272.1:n.2043+9475T>G (TTN-AS1)
XM_011511729.1:c.90161A>C (TTN) XP_011510031.1:p.Glu30054Ala
XM_011511730.1:c.64055A>C (TTN) XP_011510032.1:p.Glu21352Ala
XM_011511731.1:c.63914A>C (TTN) XP_011510033.1:p.Glu21305Ala
XM_017004819.1:c.89957A>C (TTN) XP_016860308.1:p.Glu29986Ala
XM_017004820.1:c.85355A>C (TTN) XP_016860309.1:p.Glu28452Ala
XM_017004821.1:c.85352A>C (TTN) XP_016860310.1:p.Glu28451Ala
XM_017004822.1:c.82394A>C (TTN) XP_016860311.1:p.Glu27465Ala
XM_017004823.1:c.64010A>C (TTN) XP_016860312.1:p.Glu21337Ala
XM_024453094.1:c.85505A>C (TTN) XP_024308862.1:p.Glu28502Ala
XM_024453095.1:c.85502A>C (TTN) XP_024308863.1:p.Glu28501Ala
XM_024453096.1:c.84935A>C (TTN) XP_024308864.1:p.Glu28312Ala
XM_024453097.1:c.82277A>C (TTN) XP_024308865.1:p.Glu27426Ala
XM_024453098.1:c.82196A>C (TTN) XP_024308866.1:p.Glu27399Ala
XM_024453099.1:c.63959A>C (TTN) XP_024308867.1:p.Glu21320Ala
XM_024453100.1:c.53813A>C (TTN) XP_024308868.1:p.Glu17938Ala