Canonical Allele Identifier: CA185940
Community Standard Title: NM_004793.4(LONP1):c.2353A>G (p.Arg785Gly)
Gene: LONP1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_004793.4:c.2353A>G MANE Select NP_004784.2:p.Arg785Gly
ENST00000360614.8:c.2353A>G MANE Select ENSP00000353826.2:p.Arg785Gly
NM_001276479.1:c.2161A>G NP_001263408.1:p.Arg721Gly
NM_001276479.2:c.2161A>G NP_001263408.1:p.Arg721Gly
NM_001276480.1:c.1765A>G NP_001263409.1:p.Arg589Gly
NM_004793.3:c.2353A>G NP_004784.2:p.Arg785Gly
NR_076392.1:n.2177A>G
NR_076392.2:n.2158A>G
ENST00000360614.7:c.2353A>G ENSP00000353826.2:p.Arg785Gly
ENST00000540670.6:c.1765A>G ENSP00000441523.1:p.Arg589Gly
ENST00000585374.5:c.2011A>G ENSP00000465585.1:p.Arg671Gly
ENST00000587552.5:n.2091A>G
ENST00000589473.1:c.193A>G ENSP00000468379.1:p.Arg65Gly
ENST00000590558.5:c.2160A>G ENSP00000467808.1:n.2160A>G
ENST00000590729.5:c.1963A>G ENSP00000465139.1:p.Arg655Gly
ENST00000593119.5:c.2161A>G ENSP00000468541.1:p.Arg721Gly