Canonical Allele Identifier: CA349406478

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530378G>A , CM000664.2:g.178530378G>A GRCh38
NC_000002.11:g.179395105G>A , CM000664.1:g.179395105G>A GRCh37
NC_000002.10:g.179103351G>A NCBI36
NG_011618.3:g.305425C>T , LRG_391:g.305425C>T
NG_051363.1:g.12552G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98533C>T (TTN) ENSP00000343764.6:p.Pro32845Ser
ENST00000342175.11:c.79618C>T (TTN) ENSP00000340554.6:p.Pro26540Ser
ENST00000359218.10:c.79417C>T (TTN) ENSP00000352154.5:p.Pro26473Ser
ENST00000342175.10:c.79618C>T (TTN) ENSP00000340554.6:p.Pro26540Ser
ENST00000342992.10:c.98533C>T (TTN) ENSP00000343764.6:p.Pro32845Ser
ENST00000359218.9:c.79417C>T (TTN) ENSP00000352154.5:p.Pro26473Ser
ENST00000460472.6:c.79042C>T (TTN) ENSP00000434586.1:p.Pro26348Ser
ENST00000589042.5:c.106237C>T (TTN) MANE Select ENSP00000467141.1:p.Pro35413Ser
ENST00000591111.5:c.101314C>T (TTN) ENSP00000465570.1:p.Pro33772Ser
ENST00000615779.4:c.101314C>T (TTN) ENSP00000483597.1:p.Pro33772Ser
NM_001256850.1:c.101314C>T (TTN) NP_001243779.1:p.Pro33772Ser
NM_001267550.2:c.106237C>T (TTN) MANE Select NP_001254479.2:p.Pro35413Ser
NM_003319.4:c.79042C>T (TTN) NP_003310.4:p.Pro26348Ser
NM_133378.4:c.98533C>T (TTN) NP_596869.4:p.Pro32845Ser
NM_133432.3:c.79417C>T (TTN) NP_597676.3:p.Pro26473Ser
NM_133437.4:c.79618C>T (TTN) NP_597681.4:p.Pro26540Ser
NR_038271.1:n.446+6742G>A (TTN-AS1)
NR_038272.1:n.220-5354G>A (TTN-AS1)
XM_011511729.1:c.105334C>T (TTN) XP_011510031.1:p.Pro35112Ser
XM_011511730.1:c.79228C>T (TTN) XP_011510032.1:p.Pro26410Ser
XM_011511731.1:c.79087C>T (TTN) XP_011510033.1:p.Pro26363Ser
XM_017004819.1:c.105130C>T (TTN) XP_016860308.1:p.Pro35044Ser
XM_017004820.1:c.100528C>T (TTN) XP_016860309.1:p.Pro33510Ser
XM_017004821.1:c.100525C>T (TTN) XP_016860310.1:p.Pro33509Ser
XM_017004822.1:c.97567C>T (TTN) XP_016860311.1:p.Pro32523Ser
XM_017004823.1:c.79183C>T (TTN) XP_016860312.1:p.Pro26395Ser
XM_024453094.1:c.100678C>T (TTN) XP_024308862.1:p.Pro33560Ser
XM_024453095.1:c.100675C>T (TTN) XP_024308863.1:p.Pro33559Ser
XM_024453096.1:c.100108C>T (TTN) XP_024308864.1:p.Pro33370Ser
XM_024453097.1:c.97450C>T (TTN) XP_024308865.1:p.Pro32484Ser
XM_024453098.1:c.97369C>T (TTN) XP_024308866.1:p.Pro32457Ser
XM_024453099.1:c.79132C>T (TTN) XP_024308867.1:p.Pro26378Ser
XM_024453100.1:c.68986C>T (TTN) XP_024308868.1:p.Pro22996Ser