Canonical Allele Identifier: CA349470057

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546613G>C , CM000664.2:g.178546613G>C GRCh38
NC_000002.11:g.179411340G>C , CM000664.1:g.179411340G>C GRCh37
NC_000002.10:g.179119586G>C NCBI36
NG_011618.3:g.289190C>G , LRG_391:g.289190C>G
NG_051363.1:g.28787G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87111C>G (TTN) ENSP00000343764.6:p.Cys29037Trp
ENST00000342175.11:c.68196C>G (TTN) ENSP00000340554.6:p.Cys22732Trp
ENST00000359218.10:c.67995C>G (TTN) ENSP00000352154.5:p.Cys22665Trp
ENST00000342175.10:c.68196C>G (TTN) ENSP00000340554.6:p.Cys22732Trp
ENST00000342992.10:c.87111C>G (TTN) ENSP00000343764.6:p.Cys29037Trp
ENST00000359218.9:c.67995C>G (TTN) ENSP00000352154.5:p.Cys22665Trp
ENST00000460472.6:c.67620C>G (TTN) ENSP00000434586.1:p.Cys22540Trp
ENST00000589042.5:c.94815C>G (TTN) MANE Select ENSP00000467141.1:p.Cys31605Trp
ENST00000591111.5:c.89892C>G (TTN) ENSP00000465570.1:p.Cys29964Trp
ENST00000615779.4:c.89892C>G (TTN) ENSP00000483597.1:p.Cys29964Trp
NM_001256850.1:c.89892C>G (TTN) NP_001243779.1:p.Cys29964Trp
NM_001267550.2:c.94815C>G (TTN) MANE Select NP_001254479.2:p.Cys31605Trp
NM_003319.4:c.67620C>G (TTN) NP_003310.4:p.Cys22540Trp
NM_133378.4:c.87111C>G (TTN) NP_596869.4:p.Cys29037Trp
NM_133432.3:c.67995C>G (TTN) NP_597676.3:p.Cys22665Trp
NM_133437.4:c.68196C>G (TTN) NP_597681.4:p.Cys22732Trp
NR_038271.1:n.446+22977G>C (TTN-AS1)
NR_038272.1:n.2043+4252G>C (TTN-AS1)
XM_011511729.1:c.93912C>G (TTN) XP_011510031.1:p.Cys31304Trp
XM_011511730.1:c.67806C>G (TTN) XP_011510032.1:p.Cys22602Trp
XM_011511731.1:c.67665C>G (TTN) XP_011510033.1:p.Cys22555Trp
XM_017004819.1:c.93708C>G (TTN) XP_016860308.1:p.Cys31236Trp
XM_017004820.1:c.89106C>G (TTN) XP_016860309.1:p.Cys29702Trp
XM_017004821.1:c.89103C>G (TTN) XP_016860310.1:p.Cys29701Trp
XM_017004822.1:c.86145C>G (TTN) XP_016860311.1:p.Cys28715Trp
XM_017004823.1:c.67761C>G (TTN) XP_016860312.1:p.Cys22587Trp
XM_024453094.1:c.89256C>G (TTN) XP_024308862.1:p.Cys29752Trp
XM_024453095.1:c.89253C>G (TTN) XP_024308863.1:p.Cys29751Trp
XM_024453096.1:c.88686C>G (TTN) XP_024308864.1:p.Cys29562Trp
XM_024453097.1:c.86028C>G (TTN) XP_024308865.1:p.Cys28676Trp
XM_024453098.1:c.85947C>G (TTN) XP_024308866.1:p.Cys28649Trp
XM_024453099.1:c.67710C>G (TTN) XP_024308867.1:p.Cys22570Trp
XM_024453100.1:c.57564C>G (TTN) XP_024308868.1:p.Cys19188Trp