Canonical Allele Identifier: CA349435470

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584482G>C , CM000664.2:g.178584482G>C GRCh38
NC_000002.11:g.179449209G>C , CM000664.1:g.179449209G>C GRCh37
NC_000002.10:g.179157455G>C NCBI36
NG_011618.3:g.251321C>G , LRG_391:g.251321C>G
NG_051363.1:g.66656G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57365C>G (TTN) ENSP00000343764.6:p.Pro19122Arg
ENST00000342175.11:c.38450C>G (TTN) ENSP00000340554.6:p.Pro12817Arg
ENST00000359218.10:c.38249C>G (TTN) ENSP00000352154.5:p.Pro12750Arg
ENST00000342175.10:c.38450C>G (TTN) ENSP00000340554.6:p.Pro12817Arg
ENST00000342992.10:c.57365C>G (TTN) ENSP00000343764.6:p.Pro19122Arg
ENST00000359218.9:c.38249C>G (TTN) ENSP00000352154.5:p.Pro12750Arg
ENST00000460472.6:c.37874C>G (TTN) ENSP00000434586.1:p.Pro12625Arg
ENST00000589042.5:c.65069C>G (TTN) MANE Select ENSP00000467141.1:p.Pro21690Arg
ENST00000591111.5:c.60146C>G (TTN) ENSP00000465570.1:p.Pro20049Arg
ENST00000615779.4:c.60146C>G (TTN) ENSP00000483597.1:p.Pro20049Arg
NM_001256850.1:c.60146C>G (TTN) NP_001243779.1:p.Pro20049Arg
NM_001267550.2:c.65069C>G (TTN) MANE Select NP_001254479.2:p.Pro21690Arg
NM_003319.4:c.37874C>G (TTN) NP_003310.4:p.Pro12625Arg
NM_133378.4:c.57365C>G (TTN) NP_596869.4:p.Pro19122Arg
NM_133432.3:c.38249C>G (TTN) NP_597676.3:p.Pro12750Arg
NM_133437.4:c.38450C>G (TTN) NP_597681.4:p.Pro12817Arg
NR_038271.1:n.596+13033G>C (TTN-AS1)
NR_038272.1:n.2768-91G>C (TTN-AS1)
XM_011511729.1:c.64166C>G (TTN) XP_011510031.1:p.Pro21389Arg
XM_011511730.1:c.38060C>G (TTN) XP_011510032.1:p.Pro12687Arg
XM_011511731.1:c.37919C>G (TTN) XP_011510033.1:p.Pro12640Arg
XM_017004819.1:c.63962C>G (TTN) XP_016860308.1:p.Pro21321Arg
XM_017004820.1:c.59360C>G (TTN) XP_016860309.1:p.Pro19787Arg
XM_017004821.1:c.59357C>G (TTN) XP_016860310.1:p.Pro19786Arg
XM_017004822.1:c.56399C>G (TTN) XP_016860311.1:p.Pro18800Arg
XM_017004823.1:c.38015C>G (TTN) XP_016860312.1:p.Pro12672Arg
XM_024453094.1:c.59510C>G (TTN) XP_024308862.1:p.Pro19837Arg
XM_024453095.1:c.59507C>G (TTN) XP_024308863.1:p.Pro19836Arg
XM_024453096.1:c.58940C>G (TTN) XP_024308864.1:p.Pro19647Arg
XM_024453097.1:c.56282C>G (TTN) XP_024308865.1:p.Pro18761Arg
XM_024453098.1:c.56201C>G (TTN) XP_024308866.1:p.Pro18734Arg
XM_024453099.1:c.37964C>G (TTN) XP_024308867.1:p.Pro12655Arg
XM_024453100.1:c.27818C>G (TTN) XP_024308868.1:p.Pro9273Arg