Canonical Allele Identifier: CA349411924

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532260T>G , CM000664.2:g.178532260T>G GRCh38
NC_000002.11:g.179396987T>G , CM000664.1:g.179396987T>G GRCh37
NC_000002.10:g.179105233T>G NCBI36
NG_011618.3:g.303543A>C , LRG_391:g.303543A>C
NG_051363.1:g.14434T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96651A>C (TTN) ENSP00000343764.6:p.Glu32217Asp
ENST00000342175.11:c.77736A>C (TTN) ENSP00000340554.6:p.Glu25912Asp
ENST00000359218.10:c.77535A>C (TTN) ENSP00000352154.5:p.Glu25845Asp
ENST00000342175.10:c.77736A>C (TTN) ENSP00000340554.6:p.Glu25912Asp
ENST00000342992.10:c.96651A>C (TTN) ENSP00000343764.6:p.Glu32217Asp
ENST00000359218.9:c.77535A>C (TTN) ENSP00000352154.5:p.Glu25845Asp
ENST00000460472.6:c.77160A>C (TTN) ENSP00000434586.1:p.Glu25720Asp
ENST00000589042.5:c.104355A>C (TTN) MANE Select ENSP00000467141.1:p.Glu34785Asp
ENST00000591111.5:c.99432A>C (TTN) ENSP00000465570.1:p.Glu33144Asp
ENST00000615779.4:c.99432A>C (TTN) ENSP00000483597.1:p.Glu33144Asp
NM_001256850.1:c.99432A>C (TTN) NP_001243779.1:p.Glu33144Asp
NM_001267550.2:c.104355A>C (TTN) MANE Select NP_001254479.2:p.Glu34785Asp
NM_003319.4:c.77160A>C (TTN) NP_003310.4:p.Glu25720Asp
NM_133378.4:c.96651A>C (TTN) NP_596869.4:p.Glu32217Asp
NM_133432.3:c.77535A>C (TTN) NP_597676.3:p.Glu25845Asp
NM_133437.4:c.77736A>C (TTN) NP_597681.4:p.Glu25912Asp
NR_038271.1:n.446+8624T>G (TTN-AS1)
NR_038272.1:n.220-3472T>G (TTN-AS1)
XM_011511729.1:c.103452A>C (TTN) XP_011510031.1:p.Glu34484Asp
XM_011511730.1:c.77346A>C (TTN) XP_011510032.1:p.Glu25782Asp
XM_011511731.1:c.77205A>C (TTN) XP_011510033.1:p.Glu25735Asp
XM_017004819.1:c.103248A>C (TTN) XP_016860308.1:p.Glu34416Asp
XM_017004820.1:c.98646A>C (TTN) XP_016860309.1:p.Glu32882Asp
XM_017004821.1:c.98643A>C (TTN) XP_016860310.1:p.Glu32881Asp
XM_017004822.1:c.95685A>C (TTN) XP_016860311.1:p.Glu31895Asp
XM_017004823.1:c.77301A>C (TTN) XP_016860312.1:p.Glu25767Asp
XM_024453094.1:c.98796A>C (TTN) XP_024308862.1:p.Glu32932Asp
XM_024453095.1:c.98793A>C (TTN) XP_024308863.1:p.Glu32931Asp
XM_024453096.1:c.98226A>C (TTN) XP_024308864.1:p.Glu32742Asp
XM_024453097.1:c.95568A>C (TTN) XP_024308865.1:p.Glu31856Asp
XM_024453098.1:c.95487A>C (TTN) XP_024308866.1:p.Glu31829Asp
XM_024453099.1:c.77250A>C (TTN) XP_024308867.1:p.Glu25750Asp
XM_024453100.1:c.67104A>C (TTN) XP_024308868.1:p.Glu22368Asp