Canonical Allele Identifier: CA349535634

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557806G>C , CM000664.2:g.178557806G>C GRCh38
NC_000002.11:g.179422533G>C , CM000664.1:g.179422533G>C GRCh37
NC_000002.10:g.179130779G>C NCBI36
NG_011618.3:g.277997C>G , LRG_391:g.277997C>G
NG_051363.1:g.39980G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.79844C>G (TTN) ENSP00000343764.6:p.Ala26615Gly
ENST00000342175.11:c.60929C>G (TTN) ENSP00000340554.6:p.Ala20310Gly
ENST00000359218.10:c.60728C>G (TTN) ENSP00000352154.5:p.Ala20243Gly
ENST00000342175.10:c.60929C>G (TTN) ENSP00000340554.6:p.Ala20310Gly
ENST00000342992.10:c.79844C>G (TTN) ENSP00000343764.6:p.Ala26615Gly
ENST00000359218.9:c.60728C>G (TTN) ENSP00000352154.5:p.Ala20243Gly
ENST00000460472.6:c.60353C>G (TTN) ENSP00000434586.1:p.Ala20118Gly
ENST00000589042.5:c.87548C>G (TTN) MANE Select ENSP00000467141.1:p.Ala29183Gly
ENST00000591111.5:c.82625C>G (TTN) ENSP00000465570.1:p.Ala27542Gly
ENST00000615779.4:c.82625C>G (TTN) ENSP00000483597.1:p.Ala27542Gly
NM_001256850.1:c.82625C>G (TTN) NP_001243779.1:p.Ala27542Gly
NM_001267550.2:c.87548C>G (TTN) MANE Select NP_001254479.2:p.Ala29183Gly
NM_003319.4:c.60353C>G (TTN) NP_003310.4:p.Ala20118Gly
NM_133378.4:c.79844C>G (TTN) NP_596869.4:p.Ala26615Gly
NM_133432.3:c.60728C>G (TTN) NP_597676.3:p.Ala20243Gly
NM_133437.4:c.60929C>G (TTN) NP_597681.4:p.Ala20310Gly
NR_038271.1:n.447-13494G>C (TTN-AS1)
NR_038272.1:n.2043+15445G>C (TTN-AS1)
XM_011511729.1:c.86645C>G (TTN) XP_011510031.1:p.Ala28882Gly
XM_011511730.1:c.60539C>G (TTN) XP_011510032.1:p.Ala20180Gly
XM_011511731.1:c.60398C>G (TTN) XP_011510033.1:p.Ala20133Gly
XM_017004819.1:c.86441C>G (TTN) XP_016860308.1:p.Ala28814Gly
XM_017004820.1:c.81839C>G (TTN) XP_016860309.1:p.Ala27280Gly
XM_017004821.1:c.81836C>G (TTN) XP_016860310.1:p.Ala27279Gly
XM_017004822.1:c.78878C>G (TTN) XP_016860311.1:p.Ala26293Gly
XM_017004823.1:c.60494C>G (TTN) XP_016860312.1:p.Ala20165Gly
XM_024453094.1:c.81989C>G (TTN) XP_024308862.1:p.Ala27330Gly
XM_024453095.1:c.81986C>G (TTN) XP_024308863.1:p.Ala27329Gly
XM_024453096.1:c.81419C>G (TTN) XP_024308864.1:p.Ala27140Gly
XM_024453097.1:c.78761C>G (TTN) XP_024308865.1:p.Ala26254Gly
XM_024453098.1:c.78680C>G (TTN) XP_024308866.1:p.Ala26227Gly
XM_024453099.1:c.60443C>G (TTN) XP_024308867.1:p.Ala20148Gly
XM_024453100.1:c.50297C>G (TTN) XP_024308868.1:p.Ala16766Gly