Canonical Allele Identifier: CA349456147

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544324C>T , CM000664.2:g.178544324C>T GRCh38
NC_000002.11:g.179409051C>T , CM000664.1:g.179409051C>T GRCh37
NC_000002.10:g.179117297C>T NCBI36
NG_011618.3:g.291479G>A , LRG_391:g.291479G>A
NG_051363.1:g.26498C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88201G>A (TTN) ENSP00000343764.6:p.Glu29401Lys
ENST00000342175.11:c.69286G>A (TTN) ENSP00000340554.6:p.Glu23096Lys
ENST00000359218.10:c.69085G>A (TTN) ENSP00000352154.5:p.Glu23029Lys
ENST00000342175.10:c.69286G>A (TTN) ENSP00000340554.6:p.Glu23096Lys
ENST00000342992.10:c.88201G>A (TTN) ENSP00000343764.6:p.Glu29401Lys
ENST00000359218.9:c.69085G>A (TTN) ENSP00000352154.5:p.Glu23029Lys
ENST00000460472.6:c.68710G>A (TTN) ENSP00000434586.1:p.Glu22904Lys
ENST00000589042.5:c.95905G>A (TTN) MANE Select ENSP00000467141.1:p.Glu31969Lys
ENST00000591111.5:c.90982G>A (TTN) ENSP00000465570.1:p.Glu30328Lys
ENST00000615779.4:c.90982G>A (TTN) ENSP00000483597.1:p.Glu30328Lys
NM_001256850.1:c.90982G>A (TTN) NP_001243779.1:p.Glu30328Lys
NM_001267550.2:c.95905G>A (TTN) MANE Select NP_001254479.2:p.Glu31969Lys
NM_003319.4:c.68710G>A (TTN) NP_003310.4:p.Glu22904Lys
NM_133378.4:c.88201G>A (TTN) NP_596869.4:p.Glu29401Lys
NM_133432.3:c.69085G>A (TTN) NP_597676.3:p.Glu23029Lys
NM_133437.4:c.69286G>A (TTN) NP_597681.4:p.Glu23096Lys
NR_038271.1:n.446+20688C>T (TTN-AS1)
NR_038272.1:n.2043+1963C>T (TTN-AS1)
XM_011511729.1:c.95002G>A (TTN) XP_011510031.1:p.Glu31668Lys
XM_011511730.1:c.68896G>A (TTN) XP_011510032.1:p.Glu22966Lys
XM_011511731.1:c.68755G>A (TTN) XP_011510033.1:p.Glu22919Lys
XM_017004819.1:c.94798G>A (TTN) XP_016860308.1:p.Glu31600Lys
XM_017004820.1:c.90196G>A (TTN) XP_016860309.1:p.Glu30066Lys
XM_017004821.1:c.90193G>A (TTN) XP_016860310.1:p.Glu30065Lys
XM_017004822.1:c.87235G>A (TTN) XP_016860311.1:p.Glu29079Lys
XM_017004823.1:c.68851G>A (TTN) XP_016860312.1:p.Glu22951Lys
XM_024453094.1:c.90346G>A (TTN) XP_024308862.1:p.Glu30116Lys
XM_024453095.1:c.90343G>A (TTN) XP_024308863.1:p.Glu30115Lys
XM_024453096.1:c.89776G>A (TTN) XP_024308864.1:p.Glu29926Lys
XM_024453097.1:c.87118G>A (TTN) XP_024308865.1:p.Glu29040Lys
XM_024453098.1:c.87037G>A (TTN) XP_024308866.1:p.Glu29013Lys
XM_024453099.1:c.68800G>A (TTN) XP_024308867.1:p.Glu22934Lys
XM_024453100.1:c.58654G>A (TTN) XP_024308868.1:p.Glu19552Lys