Canonical Allele Identifier: CA349450678

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543872G>C , CM000664.2:g.178543872G>C GRCh38
NC_000002.11:g.179408599G>C , CM000664.1:g.179408599G>C GRCh37
NC_000002.10:g.179116845G>C NCBI36
NG_011618.3:g.291931C>G , LRG_391:g.291931C>G
NG_051363.1:g.26046G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88568C>G (TTN) ENSP00000343764.6:p.Ser29523Cys
ENST00000342175.11:c.69653C>G (TTN) ENSP00000340554.6:p.Ser23218Cys
ENST00000359218.10:c.69452C>G (TTN) ENSP00000352154.5:p.Ser23151Cys
ENST00000342175.10:c.69653C>G (TTN) ENSP00000340554.6:p.Ser23218Cys
ENST00000342992.10:c.88568C>G (TTN) ENSP00000343764.6:p.Ser29523Cys
ENST00000359218.9:c.69452C>G (TTN) ENSP00000352154.5:p.Ser23151Cys
ENST00000460472.6:c.69077C>G (TTN) ENSP00000434586.1:p.Ser23026Cys
ENST00000589042.5:c.96272C>G (TTN) MANE Select ENSP00000467141.1:p.Ser32091Cys
ENST00000591111.5:c.91349C>G (TTN) ENSP00000465570.1:p.Ser30450Cys
ENST00000615779.4:c.91349C>G (TTN) ENSP00000483597.1:p.Ser30450Cys
NM_001256850.1:c.91349C>G (TTN) NP_001243779.1:p.Ser30450Cys
NM_001267550.2:c.96272C>G (TTN) MANE Select NP_001254479.2:p.Ser32091Cys
NM_003319.4:c.69077C>G (TTN) NP_003310.4:p.Ser23026Cys
NM_133378.4:c.88568C>G (TTN) NP_596869.4:p.Ser29523Cys
NM_133432.3:c.69452C>G (TTN) NP_597676.3:p.Ser23151Cys
NM_133437.4:c.69653C>G (TTN) NP_597681.4:p.Ser23218Cys
NR_038271.1:n.446+20236G>C (TTN-AS1)
NR_038272.1:n.2043+1511G>C (TTN-AS1)
XM_011511729.1:c.95369C>G (TTN) XP_011510031.1:p.Ser31790Cys
XM_011511730.1:c.69263C>G (TTN) XP_011510032.1:p.Ser23088Cys
XM_011511731.1:c.69122C>G (TTN) XP_011510033.1:p.Ser23041Cys
XM_017004819.1:c.95165C>G (TTN) XP_016860308.1:p.Ser31722Cys
XM_017004820.1:c.90563C>G (TTN) XP_016860309.1:p.Ser30188Cys
XM_017004821.1:c.90560C>G (TTN) XP_016860310.1:p.Ser30187Cys
XM_017004822.1:c.87602C>G (TTN) XP_016860311.1:p.Ser29201Cys
XM_017004823.1:c.69218C>G (TTN) XP_016860312.1:p.Ser23073Cys
XM_024453094.1:c.90713C>G (TTN) XP_024308862.1:p.Ser30238Cys
XM_024453095.1:c.90710C>G (TTN) XP_024308863.1:p.Ser30237Cys
XM_024453096.1:c.90143C>G (TTN) XP_024308864.1:p.Ser30048Cys
XM_024453097.1:c.87485C>G (TTN) XP_024308865.1:p.Ser29162Cys
XM_024453098.1:c.87404C>G (TTN) XP_024308866.1:p.Ser29135Cys
XM_024453099.1:c.69167C>G (TTN) XP_024308867.1:p.Ser23056Cys
XM_024453100.1:c.59021C>G (TTN) XP_024308868.1:p.Ser19674Cys