Canonical Allele Identifier: CA349601333

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567392A>C , CM000664.2:g.178567392A>C GRCh38
NC_000002.11:g.179432119A>C , CM000664.1:g.179432119A>C GRCh37
NC_000002.10:g.179140365A>C NCBI36
NG_011618.3:g.268411T>G , LRG_391:g.268411T>G
NG_051363.1:g.49566A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71036T>G (TTN) ENSP00000343764.6:p.Phe23679Cys
ENST00000342175.11:c.52121T>G (TTN) ENSP00000340554.6:p.Phe17374Cys
ENST00000359218.10:c.51920T>G (TTN) ENSP00000352154.5:p.Phe17307Cys
ENST00000342175.10:c.52121T>G (TTN) ENSP00000340554.6:p.Phe17374Cys
ENST00000342992.10:c.71036T>G (TTN) ENSP00000343764.6:p.Phe23679Cys
ENST00000359218.9:c.51920T>G (TTN) ENSP00000352154.5:p.Phe17307Cys
ENST00000460472.6:c.51545T>G (TTN) ENSP00000434586.1:p.Phe17182Cys
ENST00000589042.5:c.78740T>G (TTN) MANE Select ENSP00000467141.1:p.Phe26247Cys
ENST00000591111.5:c.73817T>G (TTN) ENSP00000465570.1:p.Phe24606Cys
ENST00000615779.4:c.73817T>G (TTN) ENSP00000483597.1:p.Phe24606Cys
NM_001256850.1:c.73817T>G (TTN) NP_001243779.1:p.Phe24606Cys
NM_001267550.2:c.78740T>G (TTN) MANE Select NP_001254479.2:p.Phe26247Cys
NM_003319.4:c.51545T>G (TTN) NP_003310.4:p.Phe17182Cys
NM_133378.4:c.71036T>G (TTN) NP_596869.4:p.Phe23679Cys
NM_133432.3:c.51920T>G (TTN) NP_597676.3:p.Phe17307Cys
NM_133437.4:c.52121T>G (TTN) NP_597681.4:p.Phe17374Cys
NR_038271.1:n.447-3908A>C (TTN-AS1)
NR_038272.1:n.2044-15180A>C (TTN-AS1)
XM_011511729.1:c.77837T>G (TTN) XP_011510031.1:p.Phe25946Cys
XM_011511730.1:c.51731T>G (TTN) XP_011510032.1:p.Phe17244Cys
XM_011511731.1:c.51590T>G (TTN) XP_011510033.1:p.Phe17197Cys
XM_017004819.1:c.77633T>G (TTN) XP_016860308.1:p.Phe25878Cys
XM_017004820.1:c.73031T>G (TTN) XP_016860309.1:p.Phe24344Cys
XM_017004821.1:c.73028T>G (TTN) XP_016860310.1:p.Phe24343Cys
XM_017004822.1:c.70070T>G (TTN) XP_016860311.1:p.Phe23357Cys
XM_017004823.1:c.51686T>G (TTN) XP_016860312.1:p.Phe17229Cys
XM_024453094.1:c.73181T>G (TTN) XP_024308862.1:p.Phe24394Cys
XM_024453095.1:c.73178T>G (TTN) XP_024308863.1:p.Phe24393Cys
XM_024453096.1:c.72611T>G (TTN) XP_024308864.1:p.Phe24204Cys
XM_024453097.1:c.69953T>G (TTN) XP_024308865.1:p.Phe23318Cys
XM_024453098.1:c.69872T>G (TTN) XP_024308866.1:p.Phe23291Cys
XM_024453099.1:c.51635T>G (TTN) XP_024308867.1:p.Phe17212Cys
XM_024453100.1:c.41489T>G (TTN) XP_024308868.1:p.Phe13830Cys