Canonical Allele Identifier: CA349599298
Community Standard Title: NM_001267550.2(TTN):c.50094G>A (p.Trp16698Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178612431C>T , CM000664.2:g.178612431C>T GRCh38
NC_000002.11:g.179477158C>T , CM000664.1:g.179477158C>T GRCh37
NC_000002.10:g.179185403C>T NCBI36
NG_011618.3:g.223372G>A , LRG_391:g.223372G>A
NG_051363.1:g.94605C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.50094G>A (TTN) MANE Select NP_001254479.2:p.Trp16698Ter
ENST00000589042.5:c.50094G>A (TTN) MANE Select ENSP00000467141.1:p.Trp16698Ter
NM_001256850.1:c.45171G>A (TTN) NP_001243779.1:p.Trp15057Ter
NM_003319.4:c.22899G>A (TTN) NP_003310.4:p.Trp7633Ter
NM_133378.4:c.42390G>A (TTN) NP_596869.4:p.Trp14130Ter
NM_133432.3:c.23274G>A (TTN) NP_597676.3:p.Trp7758Ter
NM_133437.4:c.23475G>A (TTN) NP_597681.4:p.Trp7825Ter
NR_038271.1:n.783-1604C>T (TTN-AS1)
ENST00000342175.10:c.23475G>A (TTN) ENSP00000340554.6:p.Trp7825Ter
ENST00000342175.11:c.23475G>A (TTN) ENSP00000340554.6:p.Trp7825Ter
ENST00000342992.10:c.42390G>A (TTN) ENSP00000343764.6:p.Trp14130Ter
ENST00000342992.11:c.42390G>A (TTN) ENSP00000343764.6:p.Trp14130Ter
ENST00000359218.10:c.23274G>A (TTN) ENSP00000352154.5:p.Trp7758Ter
ENST00000359218.9:c.23274G>A (TTN) ENSP00000352154.5:p.Trp7758Ter
ENST00000460472.6:c.22899G>A (TTN) ENSP00000434586.1:p.Trp7633Ter
ENST00000591111.5:c.45171G>A (TTN) ENSP00000465570.1:p.Trp15057Ter
ENST00000615779.4:c.45171G>A (TTN) ENSP00000483597.1:p.Trp15057Ter
XM_011511729.1:c.49191G>A (TTN) XP_011510031.1:p.Trp16397Ter
XM_011511730.1:c.23085G>A (TTN) XP_011510032.1:p.Trp7695Ter
XM_011511731.1:c.22944G>A (TTN) XP_011510033.1:p.Trp7648Ter
XM_017004819.1:c.48987G>A (TTN) XP_016860308.1:p.Trp16329Ter
XM_017004820.1:c.44385G>A (TTN) XP_016860309.1:p.Trp14795Ter
XM_017004821.1:c.44382G>A (TTN) XP_016860310.1:p.Trp14794Ter
XM_017004822.1:c.41424G>A (TTN) XP_016860311.1:p.Trp13808Ter
XM_017004823.1:c.23040G>A (TTN) XP_016860312.1:p.Trp7680Ter
XM_024453094.1:c.44535G>A (TTN) XP_024308862.1:p.Trp14845Ter
XM_024453095.1:c.44532G>A (TTN) XP_024308863.1:p.Trp14844Ter
XM_024453096.1:c.43965G>A (TTN) XP_024308864.1:p.Trp14655Ter
XM_024453097.1:c.41307G>A (TTN) XP_024308865.1:p.Trp13769Ter
XM_024453098.1:c.41226G>A (TTN) XP_024308866.1:p.Trp13742Ter
XM_024453099.1:c.22989G>A (TTN) XP_024308867.1:p.Trp7663Ter
XM_024453100.1:c.12843G>A (TTN) XP_024308868.1:p.Trp4281Ter