Canonical Allele Identifier: CA2320059617
Community Standard Title: NM_004793.4(LONP1):c.2353A= (p.Arg785=)
Gene: LONP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.5693737T= , CM000681.2:g.5693737T= GRCh38
NC_000019.9:g.5693748T= , CM000681.1:g.5693748T= GRCh37
NC_000019.8:g.5644748T= NCBI36
NG_033142.1:g.31716A=

Transcript Alleles

HGVS Amino-acid Change
NM_004793.4:c.2353A= MANE Select NP_004784.2:p.Arg785=
ENST00000360614.8:c.2353A= MANE Select ENSP00000353826.2:p.Arg785=
NM_001276479.1:c.2161A= NP_001263408.1:p.Arg721=
NM_001276479.2:c.2161A= NP_001263408.1:p.Arg721=
NM_001276480.1:c.1765A= NP_001263409.1:p.Arg589=
NM_004793.3:c.2353A= NP_004784.2:p.Arg785=
NR_076392.1:n.2177A=
NR_076392.2:n.2158A=
ENST00000360614.7:c.2353A= ENSP00000353826.2:p.Arg785=
ENST00000540670.6:c.1765A= ENSP00000441523.1:p.Arg589=
ENST00000585374.5:c.2011A= ENSP00000465585.1:p.Arg671=
ENST00000587552.5:n.2091A=
ENST00000589473.1:c.193A= ENSP00000468379.1:p.Arg65=
ENST00000590558.5:c.2160A= ENSP00000467808.1:n.2160A=
ENST00000590729.5:c.1963A= ENSP00000465139.1:p.Arg655=
ENST00000593119.5:c.2161A= ENSP00000468541.1:p.Arg721=