Canonical Allele Identifier: CA349672167

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178577996T>C , CM000664.2:g.178577996T>C GRCh38
NC_000002.11:g.179442723T>C , CM000664.1:g.179442723T>C GRCh37
NC_000002.10:g.179150969T>C NCBI36
NG_011618.3:g.257807A>G , LRG_391:g.257807A>G
NG_051363.1:g.60170T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.60815A>G (TTN) ENSP00000343764.6:p.Asp20272Gly
ENST00000342175.11:c.41900A>G (TTN) ENSP00000340554.6:p.Asp13967Gly
ENST00000359218.10:c.41699A>G (TTN) ENSP00000352154.5:p.Asp13900Gly
ENST00000342175.10:c.41900A>G (TTN) ENSP00000340554.6:p.Asp13967Gly
ENST00000342992.10:c.60815A>G (TTN) ENSP00000343764.6:p.Asp20272Gly
ENST00000359218.9:c.41699A>G (TTN) ENSP00000352154.5:p.Asp13900Gly
ENST00000460472.6:c.41324A>G (TTN) ENSP00000434586.1:p.Asp13775Gly
ENST00000589042.5:c.68519A>G (TTN) MANE Select ENSP00000467141.1:p.Asp22840Gly
ENST00000591111.5:c.63596A>G (TTN) ENSP00000465570.1:p.Asp21199Gly
ENST00000615779.4:c.63596A>G (TTN) ENSP00000483597.1:p.Asp21199Gly
NM_001256850.1:c.63596A>G (TTN) NP_001243779.1:p.Asp21199Gly
NM_001267550.2:c.68519A>G (TTN) MANE Select NP_001254479.2:p.Asp22840Gly
NM_003319.4:c.41324A>G (TTN) NP_003310.4:p.Asp13775Gly
NM_133378.4:c.60815A>G (TTN) NP_596869.4:p.Asp20272Gly
NM_133432.3:c.41699A>G (TTN) NP_597676.3:p.Asp13900Gly
NM_133437.4:c.41900A>G (TTN) NP_597681.4:p.Asp13967Gly
NR_038271.1:n.596+6547T>C (TTN-AS1)
NR_038272.1:n.2044-4576T>C (TTN-AS1)
XM_011511729.1:c.67616A>G (TTN) XP_011510031.1:p.Asp22539Gly
XM_011511730.1:c.41510A>G (TTN) XP_011510032.1:p.Asp13837Gly
XM_011511731.1:c.41369A>G (TTN) XP_011510033.1:p.Asp13790Gly
XM_017004819.1:c.67412A>G (TTN) XP_016860308.1:p.Asp22471Gly
XM_017004820.1:c.62810A>G (TTN) XP_016860309.1:p.Asp20937Gly
XM_017004821.1:c.62807A>G (TTN) XP_016860310.1:p.Asp20936Gly
XM_017004822.1:c.59849A>G (TTN) XP_016860311.1:p.Asp19950Gly
XM_017004823.1:c.41465A>G (TTN) XP_016860312.1:p.Asp13822Gly
XM_024453094.1:c.62960A>G (TTN) XP_024308862.1:p.Asp20987Gly
XM_024453095.1:c.62957A>G (TTN) XP_024308863.1:p.Asp20986Gly
XM_024453096.1:c.62390A>G (TTN) XP_024308864.1:p.Asp20797Gly
XM_024453097.1:c.59732A>G (TTN) XP_024308865.1:p.Asp19911Gly
XM_024453098.1:c.59651A>G (TTN) XP_024308866.1:p.Asp19884Gly
XM_024453099.1:c.41414A>G (TTN) XP_024308867.1:p.Asp13805Gly
XM_024453100.1:c.31268A>G (TTN) XP_024308868.1:p.Asp10423Gly