Canonical Allele Identifier: CA3097384508
Community Standard Title: NM_001267550.2(TTN):c.48875G= (p.Trp16292=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614639C= , CM000664.2:g.178614639C= GRCh38
NC_000002.11:g.179479366C= , CM000664.1:g.179479366C= GRCh37
NC_000002.10:g.179187611C= NCBI36
NG_011618.3:g.221164G= , LRG_391:g.221164G=
NG_051363.1:g.96813C=

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.48875G= (TTN) MANE Select NP_001254479.2:p.Trp16292=
ENST00000589042.5:c.48875G= (TTN) MANE Select ENSP00000467141.1:p.Trp16292=
NM_001256850.1:c.43952G= (TTN) NP_001243779.1:p.Trp14651=
NM_003319.4:c.21680G= (TTN) NP_003310.4:p.Trp7227=
NM_133378.4:c.41171G= (TTN) NP_596869.4:p.Trp13724=
NM_133432.3:c.22055G= (TTN) NP_597676.3:p.Trp7352=
NM_133437.4:c.22256G= (TTN) NP_597681.4:p.Trp7419=
NR_038271.1:n.1387C= (TTN-AS1)
ENST00000342175.10:c.22256G= (TTN) ENSP00000340554.6:p.Trp7419=
ENST00000342175.11:c.22256G= (TTN) ENSP00000340554.6:p.Trp7419=
ENST00000342992.10:c.41171G= (TTN) ENSP00000343764.6:p.Trp13724=
ENST00000342992.11:c.41171G= (TTN) ENSP00000343764.6:p.Trp13724=
ENST00000359218.10:c.22055G= (TTN) ENSP00000352154.5:p.Trp7352=
ENST00000359218.9:c.22055G= (TTN) ENSP00000352154.5:p.Trp7352=
ENST00000460472.6:c.21680G= (TTN) ENSP00000434586.1:p.Trp7227=
ENST00000591111.5:c.43952G= (TTN) ENSP00000465570.1:p.Trp14651=
ENST00000615779.4:c.43952G= (TTN) ENSP00000483597.1:p.Trp14651=
XM_011511729.1:c.47972G= (TTN) XP_011510031.1:p.Trp15991=
XM_011511730.1:c.21866G= (TTN) XP_011510032.1:p.Trp7289=
XM_011511731.1:c.21725G= (TTN) XP_011510033.1:p.Trp7242=
XM_017004819.1:c.47768G= (TTN) XP_016860308.1:p.Trp15923=
XM_017004820.1:c.43166G= (TTN) XP_016860309.1:p.Trp14389=
XM_017004821.1:c.43163G= (TTN) XP_016860310.1:p.Trp14388=
XM_017004822.1:c.40205G= (TTN) XP_016860311.1:p.Trp13402=
XM_017004823.1:c.21821G= (TTN) XP_016860312.1:p.Trp7274=
XM_024453094.1:c.43316G= (TTN) XP_024308862.1:p.Trp14439=
XM_024453095.1:c.43313G= (TTN) XP_024308863.1:p.Trp14438=
XM_024453096.1:c.42746G= (TTN) XP_024308864.1:p.Trp14249=
XM_024453097.1:c.40088G= (TTN) XP_024308865.1:p.Trp13363=
XM_024453098.1:c.40007G= (TTN) XP_024308866.1:p.Trp13336=
XM_024453099.1:c.21770G= (TTN) XP_024308867.1:p.Trp7257=
XM_024453100.1:c.11624G= (TTN) XP_024308868.1:p.Trp3875=