Canonical Allele Identifier: CA349407264

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530620A>G , CM000664.2:g.178530620A>G GRCh38
NC_000002.11:g.179395347A>G , CM000664.1:g.179395347A>G GRCh37
NC_000002.10:g.179103593A>G NCBI36
NG_011618.3:g.305183T>C , LRG_391:g.305183T>C
NG_051363.1:g.12794A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98291T>C (TTN) ENSP00000343764.6:p.Phe32764Ser
ENST00000342175.11:c.79376T>C (TTN) ENSP00000340554.6:p.Phe26459Ser
ENST00000359218.10:c.79175T>C (TTN) ENSP00000352154.5:p.Phe26392Ser
ENST00000342175.10:c.79376T>C (TTN) ENSP00000340554.6:p.Phe26459Ser
ENST00000342992.10:c.98291T>C (TTN) ENSP00000343764.6:p.Phe32764Ser
ENST00000359218.9:c.79175T>C (TTN) ENSP00000352154.5:p.Phe26392Ser
ENST00000460472.6:c.78800T>C (TTN) ENSP00000434586.1:p.Phe26267Ser
ENST00000589042.5:c.105995T>C (TTN) MANE Select ENSP00000467141.1:p.Phe35332Ser
ENST00000591111.5:c.101072T>C (TTN) ENSP00000465570.1:p.Phe33691Ser
ENST00000615779.4:c.101072T>C (TTN) ENSP00000483597.1:p.Phe33691Ser
NM_001256850.1:c.101072T>C (TTN) NP_001243779.1:p.Phe33691Ser
NM_001267550.2:c.105995T>C (TTN) MANE Select NP_001254479.2:p.Phe35332Ser
NM_003319.4:c.78800T>C (TTN) NP_003310.4:p.Phe26267Ser
NM_133378.4:c.98291T>C (TTN) NP_596869.4:p.Phe32764Ser
NM_133432.3:c.79175T>C (TTN) NP_597676.3:p.Phe26392Ser
NM_133437.4:c.79376T>C (TTN) NP_597681.4:p.Phe26459Ser
NR_038271.1:n.446+6984A>G (TTN-AS1)
NR_038272.1:n.220-5112A>G (TTN-AS1)
XM_011511729.1:c.105092T>C (TTN) XP_011510031.1:p.Phe35031Ser
XM_011511730.1:c.78986T>C (TTN) XP_011510032.1:p.Phe26329Ser
XM_011511731.1:c.78845T>C (TTN) XP_011510033.1:p.Phe26282Ser
XM_017004819.1:c.104888T>C (TTN) XP_016860308.1:p.Phe34963Ser
XM_017004820.1:c.100286T>C (TTN) XP_016860309.1:p.Phe33429Ser
XM_017004821.1:c.100283T>C (TTN) XP_016860310.1:p.Phe33428Ser
XM_017004822.1:c.97325T>C (TTN) XP_016860311.1:p.Phe32442Ser
XM_017004823.1:c.78941T>C (TTN) XP_016860312.1:p.Phe26314Ser
XM_024453094.1:c.100436T>C (TTN) XP_024308862.1:p.Phe33479Ser
XM_024453095.1:c.100433T>C (TTN) XP_024308863.1:p.Phe33478Ser
XM_024453096.1:c.99866T>C (TTN) XP_024308864.1:p.Phe33289Ser
XM_024453097.1:c.97208T>C (TTN) XP_024308865.1:p.Phe32403Ser
XM_024453098.1:c.97127T>C (TTN) XP_024308866.1:p.Phe32376Ser
XM_024453099.1:c.78890T>C (TTN) XP_024308867.1:p.Phe26297Ser
XM_024453100.1:c.68744T>C (TTN) XP_024308868.1:p.Phe22915Ser