Canonical Allele Identifier: CA3085915263

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570640G= , CM000664.2:g.178570640G= GRCh38
NC_000002.11:g.179435367G= , CM000664.1:g.179435367G= GRCh37
NC_000002.10:g.179143613G= NCBI36
NG_011618.3:g.265163C= , LRG_391:g.265163C=
NG_051363.1:g.52814G=

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.75492C= (TTN) MANE Select NP_001254479.2:p.Asp25164=
ENST00000589042.5:c.75492C= (TTN) MANE Select ENSP00000467141.1:p.Asp25164=
NM_001256850.1:c.70569C= (TTN) NP_001243779.1:p.Asp23523=
NM_003319.4:c.48297C= (TTN) NP_003310.4:p.Asp16099=
NM_133378.4:c.67788C= (TTN) NP_596869.4:p.Asp22596=
NM_133432.3:c.48672C= (TTN) NP_597676.3:p.Asp16224=
NM_133437.4:c.48873C= (TTN) NP_597681.4:p.Asp16291=
NR_038271.1:n.447-660G= (TTN-AS1)
NR_038272.1:n.2044-11932G= (TTN-AS1)
ENST00000342175.10:c.48873C= (TTN) ENSP00000340554.6:p.Asp16291=
ENST00000342175.11:c.48873C= (TTN) ENSP00000340554.6:p.Asp16291=
ENST00000342992.10:c.67788C= (TTN) ENSP00000343764.6:p.Asp22596=
ENST00000342992.11:c.67788C= (TTN) ENSP00000343764.6:p.Asp22596=
ENST00000359218.10:c.48672C= (TTN) ENSP00000352154.5:p.Asp16224=
ENST00000359218.9:c.48672C= (TTN) ENSP00000352154.5:p.Asp16224=
ENST00000460472.6:c.48297C= (TTN) ENSP00000434586.1:p.Asp16099=
ENST00000591111.5:c.70569C= (TTN) ENSP00000465570.1:p.Asp23523=
ENST00000615779.4:c.70569C= (TTN) ENSP00000483597.1:p.Asp23523=
XM_011511729.1:c.74589C= (TTN) XP_011510031.1:p.Asp24863=
XM_011511730.1:c.48483C= (TTN) XP_011510032.1:p.Asp16161=
XM_011511731.1:c.48342C= (TTN) XP_011510033.1:p.Asp16114=
XM_017004819.1:c.74385C= (TTN) XP_016860308.1:p.Asp24795=
XM_017004820.1:c.69783C= (TTN) XP_016860309.1:p.Asp23261=
XM_017004821.1:c.69780C= (TTN) XP_016860310.1:p.Asp23260=
XM_017004822.1:c.66822C= (TTN) XP_016860311.1:p.Asp22274=
XM_017004823.1:c.48438C= (TTN) XP_016860312.1:p.Asp16146=
XM_024453094.1:c.69933C= (TTN) XP_024308862.1:p.Asp23311=
XM_024453095.1:c.69930C= (TTN) XP_024308863.1:p.Asp23310=
XM_024453096.1:c.69363C= (TTN) XP_024308864.1:p.Asp23121=
XM_024453097.1:c.66705C= (TTN) XP_024308865.1:p.Asp22235=
XM_024453098.1:c.66624C= (TTN) XP_024308866.1:p.Asp22208=
XM_024453099.1:c.48387C= (TTN) XP_024308867.1:p.Asp16129=
XM_024453100.1:c.38241C= (TTN) XP_024308868.1:p.Asp12747=