Canonical Allele Identifier: CA349494299

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178592798G>C , CM000664.2:g.178592798G>C GRCh38
NC_000002.11:g.179457525G>C , CM000664.1:g.179457525G>C GRCh37
NC_000002.10:g.179165771G>C NCBI36
NG_011618.3:g.243005C>G , LRG_391:g.243005C>G
NG_051363.1:g.74972G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51617C>G (TTN) ENSP00000343764.6:p.Pro17206Arg
ENST00000342175.11:c.32702C>G (TTN) ENSP00000340554.6:p.Pro10901Arg
ENST00000359218.10:c.32501C>G (TTN) ENSP00000352154.5:p.Pro10834Arg
ENST00000342175.10:c.32702C>G (TTN) ENSP00000340554.6:p.Pro10901Arg
ENST00000342992.10:c.51617C>G (TTN) ENSP00000343764.6:p.Pro17206Arg
ENST00000359218.9:c.32501C>G (TTN) ENSP00000352154.5:p.Pro10834Arg
ENST00000460472.6:c.32126C>G (TTN) ENSP00000434586.1:p.Pro10709Arg
ENST00000589042.5:c.59321C>G (TTN) MANE Select ENSP00000467141.1:p.Pro19774Arg
ENST00000591111.5:c.54398C>G (TTN) ENSP00000465570.1:p.Pro18133Arg
ENST00000615779.4:c.54398C>G (TTN) ENSP00000483597.1:p.Pro18133Arg
NM_001256850.1:c.54398C>G (TTN) NP_001243779.1:p.Pro18133Arg
NM_001267550.2:c.59321C>G (TTN) MANE Select NP_001254479.2:p.Pro19774Arg
NM_003319.4:c.32126C>G (TTN) NP_003310.4:p.Pro10709Arg
NM_133378.4:c.51617C>G (TTN) NP_596869.4:p.Pro17206Arg
NM_133432.3:c.32501C>G (TTN) NP_597676.3:p.Pro10834Arg
NM_133437.4:c.32702C>G (TTN) NP_597681.4:p.Pro10901Arg
NR_038271.1:n.597-4798G>C (TTN-AS1)
NR_038272.1:n.3364+1484G>C (TTN-AS1)
XM_011511729.1:c.58418C>G (TTN) XP_011510031.1:p.Pro19473Arg
XM_011511730.1:c.32312C>G (TTN) XP_011510032.1:p.Pro10771Arg
XM_011511731.1:c.32171C>G (TTN) XP_011510033.1:p.Pro10724Arg
XM_017004819.1:c.58214C>G (TTN) XP_016860308.1:p.Pro19405Arg
XM_017004820.1:c.53612C>G (TTN) XP_016860309.1:p.Pro17871Arg
XM_017004821.1:c.53609C>G (TTN) XP_016860310.1:p.Pro17870Arg
XM_017004822.1:c.50651C>G (TTN) XP_016860311.1:p.Pro16884Arg
XM_017004823.1:c.32267C>G (TTN) XP_016860312.1:p.Pro10756Arg
XM_024453094.1:c.53762C>G (TTN) XP_024308862.1:p.Pro17921Arg
XM_024453095.1:c.53759C>G (TTN) XP_024308863.1:p.Pro17920Arg
XM_024453096.1:c.53192C>G (TTN) XP_024308864.1:p.Pro17731Arg
XM_024453097.1:c.50534C>G (TTN) XP_024308865.1:p.Pro16845Arg
XM_024453098.1:c.50453C>G (TTN) XP_024308866.1:p.Pro16818Arg
XM_024453099.1:c.32216C>G (TTN) XP_024308867.1:p.Pro10739Arg
XM_024453100.1:c.22070C>G (TTN) XP_024308868.1:p.Pro7357Arg