Canonical Allele Identifier: CA349479279

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178590910G>C , CM000664.2:g.178590910G>C GRCh38
NC_000002.11:g.179455637G>C , CM000664.1:g.179455637G>C GRCh37
NC_000002.10:g.179163883G>C NCBI36
NG_011618.3:g.244893C>G , LRG_391:g.244893C>G
NG_051363.1:g.73084G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.53111C>G (TTN) ENSP00000343764.6:p.Pro17704Arg
ENST00000342175.11:c.34196C>G (TTN) ENSP00000340554.6:p.Pro11399Arg
ENST00000359218.10:c.33995C>G (TTN) ENSP00000352154.5:p.Pro11332Arg
ENST00000342175.10:c.34196C>G (TTN) ENSP00000340554.6:p.Pro11399Arg
ENST00000342992.10:c.53111C>G (TTN) ENSP00000343764.6:p.Pro17704Arg
ENST00000359218.9:c.33995C>G (TTN) ENSP00000352154.5:p.Pro11332Arg
ENST00000460472.6:c.33620C>G (TTN) ENSP00000434586.1:p.Pro11207Arg
ENST00000589042.5:c.60815C>G (TTN) MANE Select ENSP00000467141.1:p.Pro20272Arg
ENST00000591111.5:c.55892C>G (TTN) ENSP00000465570.1:p.Pro18631Arg
ENST00000615779.4:c.55892C>G (TTN) ENSP00000483597.1:p.Pro18631Arg
NM_001256850.1:c.55892C>G (TTN) NP_001243779.1:p.Pro18631Arg
NM_001267550.2:c.60815C>G (TTN) MANE Select NP_001254479.2:p.Pro20272Arg
NM_003319.4:c.33620C>G (TTN) NP_003310.4:p.Pro11207Arg
NM_133378.4:c.53111C>G (TTN) NP_596869.4:p.Pro17704Arg
NM_133432.3:c.33995C>G (TTN) NP_597676.3:p.Pro11332Arg
NM_133437.4:c.34196C>G (TTN) NP_597681.4:p.Pro11399Arg
NR_038271.1:n.597-6686G>C (TTN-AS1)
NR_038272.1:n.3189-229G>C (TTN-AS1)
XM_011511729.1:c.59912C>G (TTN) XP_011510031.1:p.Pro19971Arg
XM_011511730.1:c.33806C>G (TTN) XP_011510032.1:p.Pro11269Arg
XM_011511731.1:c.33665C>G (TTN) XP_011510033.1:p.Pro11222Arg
XM_017004819.1:c.59708C>G (TTN) XP_016860308.1:p.Pro19903Arg
XM_017004820.1:c.55106C>G (TTN) XP_016860309.1:p.Pro18369Arg
XM_017004821.1:c.55103C>G (TTN) XP_016860310.1:p.Pro18368Arg
XM_017004822.1:c.52145C>G (TTN) XP_016860311.1:p.Pro17382Arg
XM_017004823.1:c.33761C>G (TTN) XP_016860312.1:p.Pro11254Arg
XM_024453094.1:c.55256C>G (TTN) XP_024308862.1:p.Pro18419Arg
XM_024453095.1:c.55253C>G (TTN) XP_024308863.1:p.Pro18418Arg
XM_024453096.1:c.54686C>G (TTN) XP_024308864.1:p.Pro18229Arg
XM_024453097.1:c.52028C>G (TTN) XP_024308865.1:p.Pro17343Arg
XM_024453098.1:c.51947C>G (TTN) XP_024308866.1:p.Pro17316Arg
XM_024453099.1:c.33710C>G (TTN) XP_024308867.1:p.Pro11237Arg
XM_024453100.1:c.23564C>G (TTN) XP_024308868.1:p.Pro7855Arg