Canonical Allele Identifier: CA3095214466
Community Standard Title: NM_001267550.2(TTN):c.74488T= (p.Trp24830=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178571644A= , CM000664.2:g.178571644A= GRCh38
NC_000002.11:g.179436371A= , CM000664.1:g.179436371A= GRCh37
NC_000002.10:g.179144617A= NCBI36
NG_011618.3:g.264159T= , LRG_391:g.264159T=
NG_051363.1:g.53818A=

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.74488T= (TTN) MANE Select NP_001254479.2:p.Trp24830=
ENST00000589042.5:c.74488T= (TTN) MANE Select ENSP00000467141.1:p.Trp24830=
NM_001256850.1:c.69565T= (TTN) NP_001243779.1:p.Trp23189=
NM_003319.4:c.47293T= (TTN) NP_003310.4:p.Trp15765=
NM_133378.4:c.66784T= (TTN) NP_596869.4:p.Trp22262=
NM_133432.3:c.47668T= (TTN) NP_597676.3:p.Trp15890=
NM_133437.4:c.47869T= (TTN) NP_597681.4:p.Trp15957=
NR_038271.1:n.596+195A= (TTN-AS1)
NR_038272.1:n.2044-10928A= (TTN-AS1)
ENST00000342175.10:c.47869T= (TTN) ENSP00000340554.6:p.Trp15957=
ENST00000342175.11:c.47869T= (TTN) ENSP00000340554.6:p.Trp15957=
ENST00000342992.10:c.66784T= (TTN) ENSP00000343764.6:p.Trp22262=
ENST00000342992.11:c.66784T= (TTN) ENSP00000343764.6:p.Trp22262=
ENST00000359218.10:c.47668T= (TTN) ENSP00000352154.5:p.Trp15890=
ENST00000359218.9:c.47668T= (TTN) ENSP00000352154.5:p.Trp15890=
ENST00000460472.6:c.47293T= (TTN) ENSP00000434586.1:p.Trp15765=
ENST00000591111.5:c.69565T= (TTN) ENSP00000465570.1:p.Trp23189=
ENST00000615779.4:c.69565T= (TTN) ENSP00000483597.1:p.Trp23189=
XM_011511729.1:c.73585T= (TTN) XP_011510031.1:p.Trp24529=
XM_011511730.1:c.47479T= (TTN) XP_011510032.1:p.Trp15827=
XM_011511731.1:c.47338T= (TTN) XP_011510033.1:p.Trp15780=
XM_017004819.1:c.73381T= (TTN) XP_016860308.1:p.Trp24461=
XM_017004820.1:c.68779T= (TTN) XP_016860309.1:p.Trp22927=
XM_017004821.1:c.68776T= (TTN) XP_016860310.1:p.Trp22926=
XM_017004822.1:c.65818T= (TTN) XP_016860311.1:p.Trp21940=
XM_017004823.1:c.47434T= (TTN) XP_016860312.1:p.Trp15812=
XM_024453094.1:c.68929T= (TTN) XP_024308862.1:p.Trp22977=
XM_024453095.1:c.68926T= (TTN) XP_024308863.1:p.Trp22976=
XM_024453096.1:c.68359T= (TTN) XP_024308864.1:p.Trp22787=
XM_024453097.1:c.65701T= (TTN) XP_024308865.1:p.Trp21901=
XM_024453098.1:c.65620T= (TTN) XP_024308866.1:p.Trp21874=
XM_024453099.1:c.47383T= (TTN) XP_024308867.1:p.Trp15795=
XM_024453100.1:c.37237T= (TTN) XP_024308868.1:p.Trp12413=