Canonical Allele Identifier: CA349406222

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530312T>A , CM000664.2:g.178530312T>A GRCh38
NC_000002.11:g.179395039T>A , CM000664.1:g.179395039T>A GRCh37
NC_000002.10:g.179103285T>A NCBI36
NG_011618.3:g.305491A>T , LRG_391:g.305491A>T
NG_051363.1:g.12486T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98599A>T (TTN) ENSP00000343764.6:p.Ser32867Cys
ENST00000342175.11:c.79684A>T (TTN) ENSP00000340554.6:p.Ser26562Cys
ENST00000359218.10:c.79483A>T (TTN) ENSP00000352154.5:p.Ser26495Cys
ENST00000342175.10:c.79684A>T (TTN) ENSP00000340554.6:p.Ser26562Cys
ENST00000342992.10:c.98599A>T (TTN) ENSP00000343764.6:p.Ser32867Cys
ENST00000359218.9:c.79483A>T (TTN) ENSP00000352154.5:p.Ser26495Cys
ENST00000460472.6:c.79108A>T (TTN) ENSP00000434586.1:p.Ser26370Cys
ENST00000589042.5:c.106303A>T (TTN) MANE Select ENSP00000467141.1:p.Ser35435Cys
ENST00000591111.5:c.101380A>T (TTN) ENSP00000465570.1:p.Ser33794Cys
ENST00000615779.4:c.101380A>T (TTN) ENSP00000483597.1:p.Ser33794Cys
NM_001256850.1:c.101380A>T (TTN) NP_001243779.1:p.Ser33794Cys
NM_001267550.2:c.106303A>T (TTN) MANE Select NP_001254479.2:p.Ser35435Cys
NM_003319.4:c.79108A>T (TTN) NP_003310.4:p.Ser26370Cys
NM_133378.4:c.98599A>T (TTN) NP_596869.4:p.Ser32867Cys
NM_133432.3:c.79483A>T (TTN) NP_597676.3:p.Ser26495Cys
NM_133437.4:c.79684A>T (TTN) NP_597681.4:p.Ser26562Cys
NR_038271.1:n.446+6676T>A (TTN-AS1)
NR_038272.1:n.220-5420T>A (TTN-AS1)
XM_011511729.1:c.105400A>T (TTN) XP_011510031.1:p.Ser35134Cys
XM_011511730.1:c.79294A>T (TTN) XP_011510032.1:p.Ser26432Cys
XM_011511731.1:c.79153A>T (TTN) XP_011510033.1:p.Ser26385Cys
XM_017004819.1:c.105196A>T (TTN) XP_016860308.1:p.Ser35066Cys
XM_017004820.1:c.100594A>T (TTN) XP_016860309.1:p.Ser33532Cys
XM_017004821.1:c.100591A>T (TTN) XP_016860310.1:p.Ser33531Cys
XM_017004822.1:c.97633A>T (TTN) XP_016860311.1:p.Ser32545Cys
XM_017004823.1:c.79249A>T (TTN) XP_016860312.1:p.Ser26417Cys
XM_024453094.1:c.100744A>T (TTN) XP_024308862.1:p.Ser33582Cys
XM_024453095.1:c.100741A>T (TTN) XP_024308863.1:p.Ser33581Cys
XM_024453096.1:c.100174A>T (TTN) XP_024308864.1:p.Ser33392Cys
XM_024453097.1:c.97516A>T (TTN) XP_024308865.1:p.Ser32506Cys
XM_024453098.1:c.97435A>T (TTN) XP_024308866.1:p.Ser32479Cys
XM_024453099.1:c.79198A>T (TTN) XP_024308867.1:p.Ser26400Cys
XM_024453100.1:c.69052A>T (TTN) XP_024308868.1:p.Ser23018Cys