Canonical Allele Identifier: CA349605029

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178613934G>C , CM000664.2:g.178613934G>C GRCh38
NC_000002.11:g.179478661G>C , CM000664.1:g.179478661G>C GRCh37
NC_000002.10:g.179186906G>C NCBI36
NG_011618.3:g.221869C>G , LRG_391:g.221869C>G
NG_051363.1:g.96108G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.41645C>G (TTN) ENSP00000343764.6:p.Pro13882Arg
ENST00000342175.11:c.22730C>G (TTN) ENSP00000340554.6:p.Pro7577Arg
ENST00000359218.10:c.22529C>G (TTN) ENSP00000352154.5:p.Pro7510Arg
ENST00000342175.10:c.22730C>G (TTN) ENSP00000340554.6:p.Pro7577Arg
ENST00000342992.10:c.41645C>G (TTN) ENSP00000343764.6:p.Pro13882Arg
ENST00000359218.9:c.22529C>G (TTN) ENSP00000352154.5:p.Pro7510Arg
ENST00000460472.6:c.22154C>G (TTN) ENSP00000434586.1:p.Pro7385Arg
ENST00000589042.5:c.49349C>G (TTN) MANE Select ENSP00000467141.1:p.Pro16450Arg
ENST00000591111.5:c.44426C>G (TTN) ENSP00000465570.1:p.Pro14809Arg
ENST00000615779.4:c.44426C>G (TTN) ENSP00000483597.1:p.Pro14809Arg
NM_001256850.1:c.44426C>G (TTN) NP_001243779.1:p.Pro14809Arg
NM_001267550.2:c.49349C>G (TTN) MANE Select NP_001254479.2:p.Pro16450Arg
NM_003319.4:c.22154C>G (TTN) NP_003310.4:p.Pro7385Arg
NM_133378.4:c.41645C>G (TTN) NP_596869.4:p.Pro13882Arg
NM_133432.3:c.22529C>G (TTN) NP_597676.3:p.Pro7510Arg
NM_133437.4:c.22730C>G (TTN) NP_597681.4:p.Pro7577Arg
NR_038271.1:n.783-101G>C (TTN-AS1)
XM_011511729.1:c.48446C>G (TTN) XP_011510031.1:p.Pro16149Arg
XM_011511730.1:c.22340C>G (TTN) XP_011510032.1:p.Pro7447Arg
XM_011511731.1:c.22199C>G (TTN) XP_011510033.1:p.Pro7400Arg
XM_017004819.1:c.48242C>G (TTN) XP_016860308.1:p.Pro16081Arg
XM_017004820.1:c.43640C>G (TTN) XP_016860309.1:p.Pro14547Arg
XM_017004821.1:c.43637C>G (TTN) XP_016860310.1:p.Pro14546Arg
XM_017004822.1:c.40679C>G (TTN) XP_016860311.1:p.Pro13560Arg
XM_017004823.1:c.22295C>G (TTN) XP_016860312.1:p.Pro7432Arg
XM_024453094.1:c.43790C>G (TTN) XP_024308862.1:p.Pro14597Arg
XM_024453095.1:c.43787C>G (TTN) XP_024308863.1:p.Pro14596Arg
XM_024453096.1:c.43220C>G (TTN) XP_024308864.1:p.Pro14407Arg
XM_024453097.1:c.40562C>G (TTN) XP_024308865.1:p.Pro13521Arg
XM_024453098.1:c.40481C>G (TTN) XP_024308866.1:p.Pro13494Arg
XM_024453099.1:c.22244C>G (TTN) XP_024308867.1:p.Pro7415Arg
XM_024453100.1:c.12098C>G (TTN) XP_024308868.1:p.Pro4033Arg