Canonical Allele Identifier: CA349581320

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178564609C>G , CM000664.2:g.178564609C>G GRCh38
NC_000002.11:g.179429336C>G , CM000664.1:g.179429336C>G GRCh37
NC_000002.10:g.179137582C>G NCBI36
NG_011618.3:g.271194G>C , LRG_391:g.271194G>C
NG_051363.1:g.46783C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.73819G>C (TTN) ENSP00000343764.6:p.Gly24607Arg
ENST00000342175.11:c.54904G>C (TTN) ENSP00000340554.6:p.Gly18302Arg
ENST00000359218.10:c.54703G>C (TTN) ENSP00000352154.5:p.Gly18235Arg
ENST00000342175.10:c.54904G>C (TTN) ENSP00000340554.6:p.Gly18302Arg
ENST00000342992.10:c.73819G>C (TTN) ENSP00000343764.6:p.Gly24607Arg
ENST00000359218.9:c.54703G>C (TTN) ENSP00000352154.5:p.Gly18235Arg
ENST00000460472.6:c.54328G>C (TTN) ENSP00000434586.1:p.Gly18110Arg
ENST00000589042.5:c.81523G>C (TTN) MANE Select ENSP00000467141.1:p.Gly27175Arg
ENST00000591111.5:c.76600G>C (TTN) ENSP00000465570.1:p.Gly25534Arg
ENST00000615779.4:c.76600G>C (TTN) ENSP00000483597.1:p.Gly25534Arg
NM_001256850.1:c.76600G>C (TTN) NP_001243779.1:p.Gly25534Arg
NM_001267550.2:c.81523G>C (TTN) MANE Select NP_001254479.2:p.Gly27175Arg
NM_003319.4:c.54328G>C (TTN) NP_003310.4:p.Gly18110Arg
NM_133378.4:c.73819G>C (TTN) NP_596869.4:p.Gly24607Arg
NM_133432.3:c.54703G>C (TTN) NP_597676.3:p.Gly18235Arg
NM_133437.4:c.54904G>C (TTN) NP_597681.4:p.Gly18302Arg
NR_038271.1:n.447-6691C>G (TTN-AS1)
NR_038272.1:n.2044-17963C>G (TTN-AS1)
XM_011511729.1:c.80620G>C (TTN) XP_011510031.1:p.Gly26874Arg
XM_011511730.1:c.54514G>C (TTN) XP_011510032.1:p.Gly18172Arg
XM_011511731.1:c.54373G>C (TTN) XP_011510033.1:p.Gly18125Arg
XM_017004819.1:c.80416G>C (TTN) XP_016860308.1:p.Gly26806Arg
XM_017004820.1:c.75814G>C (TTN) XP_016860309.1:p.Gly25272Arg
XM_017004821.1:c.75811G>C (TTN) XP_016860310.1:p.Gly25271Arg
XM_017004822.1:c.72853G>C (TTN) XP_016860311.1:p.Gly24285Arg
XM_017004823.1:c.54469G>C (TTN) XP_016860312.1:p.Gly18157Arg
XM_024453094.1:c.75964G>C (TTN) XP_024308862.1:p.Gly25322Arg
XM_024453095.1:c.75961G>C (TTN) XP_024308863.1:p.Gly25321Arg
XM_024453096.1:c.75394G>C (TTN) XP_024308864.1:p.Gly25132Arg
XM_024453097.1:c.72736G>C (TTN) XP_024308865.1:p.Gly24246Arg
XM_024453098.1:c.72655G>C (TTN) XP_024308866.1:p.Gly24219Arg
XM_024453099.1:c.54418G>C (TTN) XP_024308867.1:p.Gly18140Arg
XM_024453100.1:c.44272G>C (TTN) XP_024308868.1:p.Gly14758Arg