Canonical Allele Identifier: CA349488751

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591986T>C , CM000664.2:g.178591986T>C GRCh38
NC_000002.11:g.179456713T>C , CM000664.1:g.179456713T>C GRCh37
NC_000002.10:g.179164959T>C NCBI36
NG_011618.3:g.243817A>G , LRG_391:g.243817A>G
NG_051363.1:g.74160T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.52214A>G (TTN) ENSP00000343764.6:p.Asp17405Gly
ENST00000342175.11:c.33299A>G (TTN) ENSP00000340554.6:p.Asp11100Gly
ENST00000359218.10:c.33098A>G (TTN) ENSP00000352154.5:p.Asp11033Gly
ENST00000342175.10:c.33299A>G (TTN) ENSP00000340554.6:p.Asp11100Gly
ENST00000342992.10:c.52214A>G (TTN) ENSP00000343764.6:p.Asp17405Gly
ENST00000359218.9:c.33098A>G (TTN) ENSP00000352154.5:p.Asp11033Gly
ENST00000460472.6:c.32723A>G (TTN) ENSP00000434586.1:p.Asp10908Gly
ENST00000589042.5:c.59918A>G (TTN) MANE Select ENSP00000467141.1:p.Asp19973Gly
ENST00000591111.5:c.54995A>G (TTN) ENSP00000465570.1:p.Asp18332Gly
ENST00000615779.4:c.54995A>G (TTN) ENSP00000483597.1:p.Asp18332Gly
NM_001256850.1:c.54995A>G (TTN) NP_001243779.1:p.Asp18332Gly
NM_001267550.2:c.59918A>G (TTN) MANE Select NP_001254479.2:p.Asp19973Gly
NM_003319.4:c.32723A>G (TTN) NP_003310.4:p.Asp10908Gly
NM_133378.4:c.52214A>G (TTN) NP_596869.4:p.Asp17405Gly
NM_133432.3:c.33098A>G (TTN) NP_597676.3:p.Asp11033Gly
NM_133437.4:c.33299A>G (TTN) NP_597681.4:p.Asp11100Gly
NR_038271.1:n.597-5610T>C (TTN-AS1)
NR_038272.1:n.3364+672T>C (TTN-AS1)
XM_011511729.1:c.59015A>G (TTN) XP_011510031.1:p.Asp19672Gly
XM_011511730.1:c.32909A>G (TTN) XP_011510032.1:p.Asp10970Gly
XM_011511731.1:c.32768A>G (TTN) XP_011510033.1:p.Asp10923Gly
XM_017004819.1:c.58811A>G (TTN) XP_016860308.1:p.Asp19604Gly
XM_017004820.1:c.54209A>G (TTN) XP_016860309.1:p.Asp18070Gly
XM_017004821.1:c.54206A>G (TTN) XP_016860310.1:p.Asp18069Gly
XM_017004822.1:c.51248A>G (TTN) XP_016860311.1:p.Asp17083Gly
XM_017004823.1:c.32864A>G (TTN) XP_016860312.1:p.Asp10955Gly
XM_024453094.1:c.54359A>G (TTN) XP_024308862.1:p.Asp18120Gly
XM_024453095.1:c.54356A>G (TTN) XP_024308863.1:p.Asp18119Gly
XM_024453096.1:c.53789A>G (TTN) XP_024308864.1:p.Asp17930Gly
XM_024453097.1:c.51131A>G (TTN) XP_024308865.1:p.Asp17044Gly
XM_024453098.1:c.51050A>G (TTN) XP_024308866.1:p.Asp17017Gly
XM_024453099.1:c.32813A>G (TTN) XP_024308867.1:p.Asp10938Gly
XM_024453100.1:c.22667A>G (TTN) XP_024308868.1:p.Asp7556Gly