Canonical Allele Identifier: CA349496618

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593059G>C , CM000664.2:g.178593059G>C GRCh38
NC_000002.11:g.179457786G>C , CM000664.1:g.179457786G>C GRCh37
NC_000002.10:g.179166032G>C NCBI36
NG_011618.3:g.242744C>G , LRG_391:g.242744C>G
NG_051363.1:g.75233G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51356C>G (TTN) ENSP00000343764.6:p.Pro17119Arg
ENST00000342175.11:c.32441C>G (TTN) ENSP00000340554.6:p.Pro10814Arg
ENST00000359218.10:c.32240C>G (TTN) ENSP00000352154.5:p.Pro10747Arg
ENST00000342175.10:c.32441C>G (TTN) ENSP00000340554.6:p.Pro10814Arg
ENST00000342992.10:c.51356C>G (TTN) ENSP00000343764.6:p.Pro17119Arg
ENST00000359218.9:c.32240C>G (TTN) ENSP00000352154.5:p.Pro10747Arg
ENST00000460472.6:c.31865C>G (TTN) ENSP00000434586.1:p.Pro10622Arg
ENST00000589042.5:c.59060C>G (TTN) MANE Select ENSP00000467141.1:p.Pro19687Arg
ENST00000591111.5:c.54137C>G (TTN) ENSP00000465570.1:p.Pro18046Arg
ENST00000615779.4:c.54137C>G (TTN) ENSP00000483597.1:p.Pro18046Arg
NM_001256850.1:c.54137C>G (TTN) NP_001243779.1:p.Pro18046Arg
NM_001267550.2:c.59060C>G (TTN) MANE Select NP_001254479.2:p.Pro19687Arg
NM_003319.4:c.31865C>G (TTN) NP_003310.4:p.Pro10622Arg
NM_133378.4:c.51356C>G (TTN) NP_596869.4:p.Pro17119Arg
NM_133432.3:c.32240C>G (TTN) NP_597676.3:p.Pro10747Arg
NM_133437.4:c.32441C>G (TTN) NP_597681.4:p.Pro10814Arg
NR_038271.1:n.597-4537G>C (TTN-AS1)
NR_038272.1:n.3364+1745G>C (TTN-AS1)
XM_011511729.1:c.58157C>G (TTN) XP_011510031.1:p.Pro19386Arg
XM_011511730.1:c.32051C>G (TTN) XP_011510032.1:p.Pro10684Arg
XM_011511731.1:c.31910C>G (TTN) XP_011510033.1:p.Pro10637Arg
XM_017004819.1:c.57953C>G (TTN) XP_016860308.1:p.Pro19318Arg
XM_017004820.1:c.53351C>G (TTN) XP_016860309.1:p.Pro17784Arg
XM_017004821.1:c.53348C>G (TTN) XP_016860310.1:p.Pro17783Arg
XM_017004822.1:c.50390C>G (TTN) XP_016860311.1:p.Pro16797Arg
XM_017004823.1:c.32006C>G (TTN) XP_016860312.1:p.Pro10669Arg
XM_024453094.1:c.53501C>G (TTN) XP_024308862.1:p.Pro17834Arg
XM_024453095.1:c.53498C>G (TTN) XP_024308863.1:p.Pro17833Arg
XM_024453096.1:c.52931C>G (TTN) XP_024308864.1:p.Pro17644Arg
XM_024453097.1:c.50273C>G (TTN) XP_024308865.1:p.Pro16758Arg
XM_024453098.1:c.50192C>G (TTN) XP_024308866.1:p.Pro16731Arg
XM_024453099.1:c.31955C>G (TTN) XP_024308867.1:p.Pro10652Arg
XM_024453100.1:c.21809C>G (TTN) XP_024308868.1:p.Pro7270Arg