Canonical Allele Identifier: CA9114841
Community Standard Title: NM_004793.4(LONP1):c.1063-50A>G
Gene: LONP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.5707193T>C , CM000681.2:g.5707193T>C GRCh38
NC_000019.9:g.5707204T>C , CM000681.1:g.5707204T>C GRCh37
NC_000019.8:g.5658204T>C NCBI36
NG_033142.1:g.18260A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004793.4:c.1063-50A>G MANE Select NP_004784.2:n.1063-50A>G
ENST00000360614.8:c.1063-50A>G MANE Select ENSP00000353826.2:n.1063-50A>G
NM_001276479.1:c.871-50A>G NP_001263408.1:n.871-50A>G
NM_001276479.2:c.871-50A>G NP_001263408.1:n.871-50A>G
NM_001276480.1:c.475-50A>G NP_001263409.1:n.475-50A>G
NM_004793.3:c.1063-50A>G NP_004784.2:n.1063-50A>G
NR_076392.1:n.887-50A>G
NR_076392.2:n.868-50A>G
ENST00000360614.7:c.1063-50A>G ENSP00000353826.2:n.1063-50A>G
ENST00000540670.6:c.475-50A>G ENSP00000441523.1:n.475-50A>G
ENST00000585374.5:c.721-50A>G ENSP00000465585.1:n.721-50A>G
ENST00000587365.1:c.436-1246A>G ENSP00000468114.1:n.436-1246A>G
ENST00000587552.5:n.503-50A>G
ENST00000588589.5:n.337-50A>G
ENST00000590206.1:c.115+504A>G
ENST00000590558.5:c.870-50A>G ENSP00000467808.1:n.870-50A>G
ENST00000590729.5:c.673-50A>G ENSP00000465139.1:n.673-50A>G
ENST00000591321.1:n.748-50A>G
ENST00000593119.5:c.871-50A>G ENSP00000468541.1:n.871-50A>G
XM_011528441.1:c.1063-50A>G XP_011526743.1:n.1063-50A>G
XM_011528441.3:c.1063-50A>G XP_011526743.1:n.1063-50A>G