Canonical Allele Identifier: CA349417049

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533960T>A , CM000664.2:g.178533960T>A GRCh38
NC_000002.11:g.179398687T>A , CM000664.1:g.179398687T>A GRCh37
NC_000002.10:g.179106933T>A NCBI36
NG_011618.3:g.301843A>T , LRG_391:g.301843A>T
NG_051363.1:g.16134T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.94951A>T (TTN) ENSP00000343764.6:p.Ser31651Cys
ENST00000342175.11:c.76036A>T (TTN) ENSP00000340554.6:p.Ser25346Cys
ENST00000359218.10:c.75835A>T (TTN) ENSP00000352154.5:p.Ser25279Cys
ENST00000342175.10:c.76036A>T (TTN) ENSP00000340554.6:p.Ser25346Cys
ENST00000342992.10:c.94951A>T (TTN) ENSP00000343764.6:p.Ser31651Cys
ENST00000359218.9:c.75835A>T (TTN) ENSP00000352154.5:p.Ser25279Cys
ENST00000460472.6:c.75460A>T (TTN) ENSP00000434586.1:p.Ser25154Cys
ENST00000589042.5:c.102655A>T (TTN) MANE Select ENSP00000467141.1:p.Ser34219Cys
ENST00000591111.5:c.97732A>T (TTN) ENSP00000465570.1:p.Ser32578Cys
ENST00000615779.4:c.97732A>T (TTN) ENSP00000483597.1:p.Ser32578Cys
NM_001256850.1:c.97732A>T (TTN) NP_001243779.1:p.Ser32578Cys
NM_001267550.2:c.102655A>T (TTN) MANE Select NP_001254479.2:p.Ser34219Cys
NM_003319.4:c.75460A>T (TTN) NP_003310.4:p.Ser25154Cys
NM_133378.4:c.94951A>T (TTN) NP_596869.4:p.Ser31651Cys
NM_133432.3:c.75835A>T (TTN) NP_597676.3:p.Ser25279Cys
NM_133437.4:c.76036A>T (TTN) NP_597681.4:p.Ser25346Cys
NR_038271.1:n.446+10324T>A (TTN-AS1)
NR_038272.1:n.220-1772T>A (TTN-AS1)
XM_011511729.1:c.101752A>T (TTN) XP_011510031.1:p.Ser33918Cys
XM_011511730.1:c.75646A>T (TTN) XP_011510032.1:p.Ser25216Cys
XM_011511731.1:c.75505A>T (TTN) XP_011510033.1:p.Ser25169Cys
XM_017004819.1:c.101548A>T (TTN) XP_016860308.1:p.Ser33850Cys
XM_017004820.1:c.96946A>T (TTN) XP_016860309.1:p.Ser32316Cys
XM_017004821.1:c.96943A>T (TTN) XP_016860310.1:p.Ser32315Cys
XM_017004822.1:c.93985A>T (TTN) XP_016860311.1:p.Ser31329Cys
XM_017004823.1:c.75601A>T (TTN) XP_016860312.1:p.Ser25201Cys
XM_024453094.1:c.97096A>T (TTN) XP_024308862.1:p.Ser32366Cys
XM_024453095.1:c.97093A>T (TTN) XP_024308863.1:p.Ser32365Cys
XM_024453096.1:c.96526A>T (TTN) XP_024308864.1:p.Ser32176Cys
XM_024453097.1:c.93868A>T (TTN) XP_024308865.1:p.Ser31290Cys
XM_024453098.1:c.93787A>T (TTN) XP_024308866.1:p.Ser31263Cys
XM_024453099.1:c.75550A>T (TTN) XP_024308867.1:p.Ser25184Cys
XM_024453100.1:c.65404A>T (TTN) XP_024308868.1:p.Ser21802Cys