Canonical Allele Identifier: CA9114920

Gene: LONP1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.5708386G>C , CM000681.2:g.5708386G>C	GRCh38
NC_000019.9:g.5708397G>C , CM000681.1:g.5708397G>C	GRCh37
NC_000019.8:g.5659397G>C	NCBI36
NG_033142.1:g.17067C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360614.8:c.888C>G MANE Select	ENSP00000353826.2:p.Ile296Met
ENST00000360614.7:c.888C>G	ENSP00000353826.2:p.Ile296Met
ENST00000540670.6:c.300C>G	ENSP00000441523.1:p.Ile100Met
ENST00000585374.5:c.546C>G	ENSP00000465585.1:p.Ile182Met
ENST00000586617.1:c.*137C>G	ENSP00000468385.1:n.*137C>G
ENST00000587365.1:c.436-2439C>G	ENSP00000468114.1:n.436-2439C>G
ENST00000587552.5:n.328C>G
ENST00000590558.5:c.695C>G	ENSP00000467808.1:n.695C>G
ENST00000590729.5:c.498C>G	ENSP00000465139.1:p.Ile166Met
ENST00000591321.1:n.573C>G
ENST00000593119.5:c.696C>G	ENSP00000468541.1:p.Ile232Met
NM_001276479.1:c.696C>G	NP_001263408.1:p.Ile232Met
NM_001276480.1:c.300C>G	NP_001263409.1:p.Ile100Met
NM_004793.3:c.888C>G	NP_004784.2:p.Ile296Met
NR_076392.1:n.712C>G
XM_011528441.1:c.888C>G	XP_011526743.1:p.Ile296Met
XM_011528441.3:c.888C>G	XP_011526743.1:p.Ile296Met
NM_001276479.2:c.696C>G	NP_001263408.1:p.Ile232Met
NM_004793.4:c.888C>G MANE Select	NP_004784.2:p.Ile296Met
NR_076392.2:n.693C>G