Canonical Allele Identifier: CA349407064

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530530G>C , CM000664.2:g.178530530G>C GRCh38
NC_000002.11:g.179395257G>C , CM000664.1:g.179395257G>C GRCh37
NC_000002.10:g.179103503G>C NCBI36
NG_011618.3:g.305273C>G , LRG_391:g.305273C>G
NG_051363.1:g.12704G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98381C>G (TTN) ENSP00000343764.6:p.Ser32794Cys
ENST00000342175.11:c.79466C>G (TTN) ENSP00000340554.6:p.Ser26489Cys
ENST00000359218.10:c.79265C>G (TTN) ENSP00000352154.5:p.Ser26422Cys
ENST00000342175.10:c.79466C>G (TTN) ENSP00000340554.6:p.Ser26489Cys
ENST00000342992.10:c.98381C>G (TTN) ENSP00000343764.6:p.Ser32794Cys
ENST00000359218.9:c.79265C>G (TTN) ENSP00000352154.5:p.Ser26422Cys
ENST00000460472.6:c.78890C>G (TTN) ENSP00000434586.1:p.Ser26297Cys
ENST00000589042.5:c.106085C>G (TTN) MANE Select ENSP00000467141.1:p.Ser35362Cys
ENST00000591111.5:c.101162C>G (TTN) ENSP00000465570.1:p.Ser33721Cys
ENST00000615779.4:c.101162C>G (TTN) ENSP00000483597.1:p.Ser33721Cys
NM_001256850.1:c.101162C>G (TTN) NP_001243779.1:p.Ser33721Cys
NM_001267550.2:c.106085C>G (TTN) MANE Select NP_001254479.2:p.Ser35362Cys
NM_003319.4:c.78890C>G (TTN) NP_003310.4:p.Ser26297Cys
NM_133378.4:c.98381C>G (TTN) NP_596869.4:p.Ser32794Cys
NM_133432.3:c.79265C>G (TTN) NP_597676.3:p.Ser26422Cys
NM_133437.4:c.79466C>G (TTN) NP_597681.4:p.Ser26489Cys
NR_038271.1:n.446+6894G>C (TTN-AS1)
NR_038272.1:n.220-5202G>C (TTN-AS1)
XM_011511729.1:c.105182C>G (TTN) XP_011510031.1:p.Ser35061Cys
XM_011511730.1:c.79076C>G (TTN) XP_011510032.1:p.Ser26359Cys
XM_011511731.1:c.78935C>G (TTN) XP_011510033.1:p.Ser26312Cys
XM_017004819.1:c.104978C>G (TTN) XP_016860308.1:p.Ser34993Cys
XM_017004820.1:c.100376C>G (TTN) XP_016860309.1:p.Ser33459Cys
XM_017004821.1:c.100373C>G (TTN) XP_016860310.1:p.Ser33458Cys
XM_017004822.1:c.97415C>G (TTN) XP_016860311.1:p.Ser32472Cys
XM_017004823.1:c.79031C>G (TTN) XP_016860312.1:p.Ser26344Cys
XM_024453094.1:c.100526C>G (TTN) XP_024308862.1:p.Ser33509Cys
XM_024453095.1:c.100523C>G (TTN) XP_024308863.1:p.Ser33508Cys
XM_024453096.1:c.99956C>G (TTN) XP_024308864.1:p.Ser33319Cys
XM_024453097.1:c.97298C>G (TTN) XP_024308865.1:p.Ser32433Cys
XM_024453098.1:c.97217C>G (TTN) XP_024308866.1:p.Ser32406Cys
XM_024453099.1:c.78980C>G (TTN) XP_024308867.1:p.Ser26327Cys
XM_024453100.1:c.68834C>G (TTN) XP_024308868.1:p.Ser22945Cys