Canonical Allele Identifier: CA349483640

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591127C>A , CM000664.2:g.178591127C>A GRCh38
NC_000002.11:g.179455854C>A , CM000664.1:g.179455854C>A GRCh37
NC_000002.10:g.179164100C>A NCBI36
NG_011618.3:g.244676G>T , LRG_391:g.244676G>T
NG_051363.1:g.73301C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52894G>T (TTN) ENSP00000343764.6:p.Gly17632Ter
ENST00000342175.11:c.33979G>T (TTN) ENSP00000340554.6:p.Gly11327Ter
ENST00000359218.10:c.33778G>T (TTN) ENSP00000352154.5:p.Gly11260Ter
ENST00000342175.10:c.33979G>T (TTN) ENSP00000340554.6:p.Gly11327Ter
ENST00000342992.10:c.52894G>T (TTN) ENSP00000343764.6:p.Gly17632Ter
ENST00000359218.9:c.33778G>T (TTN) ENSP00000352154.5:p.Gly11260Ter
ENST00000460472.6:c.33403G>T (TTN) ENSP00000434586.1:p.Gly11135Ter
ENST00000589042.5:c.60598G>T (TTN) MANE Select ENSP00000467141.1:p.Gly20200Ter
ENST00000591111.5:c.55675G>T (TTN) ENSP00000465570.1:p.Gly18559Ter
ENST00000615779.4:c.55675G>T (TTN) ENSP00000483597.1:p.Gly18559Ter
NM_001256850.1:c.55675G>T (TTN) NP_001243779.1:p.Gly18559Ter
NM_001267550.2:c.60598G>T (TTN) MANE Select NP_001254479.2:p.Gly20200Ter
NM_003319.4:c.33403G>T (TTN) NP_003310.4:p.Gly11135Ter
NM_133378.4:c.52894G>T (TTN) NP_596869.4:p.Gly17632Ter
NM_133432.3:c.33778G>T (TTN) NP_597676.3:p.Gly11260Ter
NM_133437.4:c.33979G>T (TTN) NP_597681.4:p.Gly11327Ter
NR_038271.1:n.597-6469C>A (TTN-AS1)
NR_038272.1:n.3189-12C>A (TTN-AS1)
XM_011511729.1:c.59695G>T (TTN) XP_011510031.1:p.Gly19899Ter
XM_011511730.1:c.33589G>T (TTN) XP_011510032.1:p.Gly11197Ter
XM_011511731.1:c.33448G>T (TTN) XP_011510033.1:p.Gly11150Ter
XM_017004819.1:c.59491G>T (TTN) XP_016860308.1:p.Gly19831Ter
XM_017004820.1:c.54889G>T (TTN) XP_016860309.1:p.Gly18297Ter
XM_017004821.1:c.54886G>T (TTN) XP_016860310.1:p.Gly18296Ter
XM_017004822.1:c.51928G>T (TTN) XP_016860311.1:p.Gly17310Ter
XM_017004823.1:c.33544G>T (TTN) XP_016860312.1:p.Gly11182Ter
XM_024453094.1:c.55039G>T (TTN) XP_024308862.1:p.Gly18347Ter
XM_024453095.1:c.55036G>T (TTN) XP_024308863.1:p.Gly18346Ter
XM_024453096.1:c.54469G>T (TTN) XP_024308864.1:p.Gly18157Ter
XM_024453097.1:c.51811G>T (TTN) XP_024308865.1:p.Gly17271Ter
XM_024453098.1:c.51730G>T (TTN) XP_024308866.1:p.Gly17244Ter
XM_024453099.1:c.33493G>T (TTN) XP_024308867.1:p.Gly11165Ter
XM_024453100.1:c.23347G>T (TTN) XP_024308868.1:p.Gly7783Ter