Canonical Allele Identifier: CA349613798

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569321G>C , CM000664.2:g.178569321G>C GRCh38
NC_000002.11:g.179434048G>C , CM000664.1:g.179434048G>C GRCh37
NC_000002.10:g.179142294G>C NCBI36
NG_011618.3:g.266482C>G , LRG_391:g.266482C>G
NG_051363.1:g.51495G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.69107C>G (TTN) ENSP00000343764.6:p.Pro23036Arg
ENST00000342175.11:c.50192C>G (TTN) ENSP00000340554.6:p.Pro16731Arg
ENST00000359218.10:c.49991C>G (TTN) ENSP00000352154.5:p.Pro16664Arg
ENST00000342175.10:c.50192C>G (TTN) ENSP00000340554.6:p.Pro16731Arg
ENST00000342992.10:c.69107C>G (TTN) ENSP00000343764.6:p.Pro23036Arg
ENST00000359218.9:c.49991C>G (TTN) ENSP00000352154.5:p.Pro16664Arg
ENST00000460472.6:c.49616C>G (TTN) ENSP00000434586.1:p.Pro16539Arg
ENST00000589042.5:c.76811C>G (TTN) MANE Select ENSP00000467141.1:p.Pro25604Arg
ENST00000591111.5:c.71888C>G (TTN) ENSP00000465570.1:p.Pro23963Arg
ENST00000615779.4:c.71888C>G (TTN) ENSP00000483597.1:p.Pro23963Arg
NM_001256850.1:c.71888C>G (TTN) NP_001243779.1:p.Pro23963Arg
NM_001267550.2:c.76811C>G (TTN) MANE Select NP_001254479.2:p.Pro25604Arg
NM_003319.4:c.49616C>G (TTN) NP_003310.4:p.Pro16539Arg
NM_133378.4:c.69107C>G (TTN) NP_596869.4:p.Pro23036Arg
NM_133432.3:c.49991C>G (TTN) NP_597676.3:p.Pro16664Arg
NM_133437.4:c.50192C>G (TTN) NP_597681.4:p.Pro16731Arg
NR_038271.1:n.447-1979G>C (TTN-AS1)
NR_038272.1:n.2044-13251G>C (TTN-AS1)
XM_011511729.1:c.75908C>G (TTN) XP_011510031.1:p.Pro25303Arg
XM_011511730.1:c.49802C>G (TTN) XP_011510032.1:p.Pro16601Arg
XM_011511731.1:c.49661C>G (TTN) XP_011510033.1:p.Pro16554Arg
XM_017004819.1:c.75704C>G (TTN) XP_016860308.1:p.Pro25235Arg
XM_017004820.1:c.71102C>G (TTN) XP_016860309.1:p.Pro23701Arg
XM_017004821.1:c.71099C>G (TTN) XP_016860310.1:p.Pro23700Arg
XM_017004822.1:c.68141C>G (TTN) XP_016860311.1:p.Pro22714Arg
XM_017004823.1:c.49757C>G (TTN) XP_016860312.1:p.Pro16586Arg
XM_024453094.1:c.71252C>G (TTN) XP_024308862.1:p.Pro23751Arg
XM_024453095.1:c.71249C>G (TTN) XP_024308863.1:p.Pro23750Arg
XM_024453096.1:c.70682C>G (TTN) XP_024308864.1:p.Pro23561Arg
XM_024453097.1:c.68024C>G (TTN) XP_024308865.1:p.Pro22675Arg
XM_024453098.1:c.67943C>G (TTN) XP_024308866.1:p.Pro22648Arg
XM_024453099.1:c.49706C>G (TTN) XP_024308867.1:p.Pro16569Arg
XM_024453100.1:c.39560C>G (TTN) XP_024308868.1:p.Pro13187Arg