Canonical Allele Identifier: CA1986845
Community Standard Title: NM_001267550.2(TTN):c.95983G>A (p.Glu31995Lys)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544246C>T , CM000664.2:g.178544246C>T GRCh38
NC_000002.11:g.179408973C>T , CM000664.1:g.179408973C>T GRCh37
NC_000002.10:g.179117219C>T NCBI36
NG_011618.3:g.291557G>A , LRG_391:g.291557G>A
NG_051363.1:g.26420C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.95983G>A (TTN) MANE Select NP_001254479.2:p.Glu31995Lys
ENST00000589042.5:c.95983G>A (TTN) MANE Select ENSP00000467141.1:p.Glu31995Lys
NM_001256850.1:c.91060G>A (TTN) NP_001243779.1:p.Glu30354Lys
NM_003319.4:c.68788G>A (TTN) NP_003310.4:p.Glu22930Lys
NM_133378.4:c.88279G>A (TTN) NP_596869.4:p.Glu29427Lys
NM_133432.3:c.69163G>A (TTN) NP_597676.3:p.Glu23055Lys
NM_133437.4:c.69364G>A (TTN) NP_597681.4:p.Glu23122Lys
NR_038271.1:n.446+20610C>T (TTN-AS1)
NR_038272.1:n.2043+1885C>T (TTN-AS1)
ENST00000342175.10:c.69364G>A (TTN) ENSP00000340554.6:p.Glu23122Lys
ENST00000342175.11:c.69364G>A (TTN) ENSP00000340554.6:p.Glu23122Lys
ENST00000342992.10:c.88279G>A (TTN) ENSP00000343764.6:p.Glu29427Lys
ENST00000342992.11:c.88279G>A (TTN) ENSP00000343764.6:p.Glu29427Lys
ENST00000359218.10:c.69163G>A (TTN) ENSP00000352154.5:p.Glu23055Lys
ENST00000359218.9:c.69163G>A (TTN) ENSP00000352154.5:p.Glu23055Lys
ENST00000460472.6:c.68788G>A (TTN) ENSP00000434586.1:p.Glu22930Lys
ENST00000591111.5:c.91060G>A (TTN) ENSP00000465570.1:p.Glu30354Lys
ENST00000615779.4:c.91060G>A (TTN) ENSP00000483597.1:p.Glu30354Lys
XM_011511729.1:c.95080G>A (TTN) XP_011510031.1:p.Glu31694Lys
XM_011511730.1:c.68974G>A (TTN) XP_011510032.1:p.Glu22992Lys
XM_011511731.1:c.68833G>A (TTN) XP_011510033.1:p.Glu22945Lys
XM_017004819.1:c.94876G>A (TTN) XP_016860308.1:p.Glu31626Lys
XM_017004820.1:c.90274G>A (TTN) XP_016860309.1:p.Glu30092Lys
XM_017004821.1:c.90271G>A (TTN) XP_016860310.1:p.Glu30091Lys
XM_017004822.1:c.87313G>A (TTN) XP_016860311.1:p.Glu29105Lys
XM_017004823.1:c.68929G>A (TTN) XP_016860312.1:p.Glu22977Lys
XM_024453094.1:c.90424G>A (TTN) XP_024308862.1:p.Glu30142Lys
XM_024453095.1:c.90421G>A (TTN) XP_024308863.1:p.Glu30141Lys
XM_024453096.1:c.89854G>A (TTN) XP_024308864.1:p.Glu29952Lys
XM_024453097.1:c.87196G>A (TTN) XP_024308865.1:p.Glu29066Lys
XM_024453098.1:c.87115G>A (TTN) XP_024308866.1:p.Glu29039Lys
XM_024453099.1:c.68878G>A (TTN) XP_024308867.1:p.Glu22960Lys
XM_024453100.1:c.58732G>A (TTN) XP_024308868.1:p.Glu19578Lys