Canonical Allele Identifier: CA9113928

Gene: LONP1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.5692059C>G , CM000681.2:g.5692059C>G	GRCh38
NC_000019.9:g.5692070C>G , CM000681.1:g.5692070C>G	GRCh37
NC_000019.8:g.5643070C>G	NCBI36
NG_017015.1:g.6799C>G
NG_033142.1:g.33394G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360614.8:c.2853G>C MANE Select	ENSP00000353826.2:p.Gln951His
ENST00000360614.7:c.2853G>C	ENSP00000353826.2:p.Gln951His
ENST00000540670.6:c.2265G>C	ENSP00000441523.1:p.Gln755His
ENST00000585374.5:c.2511G>C	ENSP00000465585.1:p.Gln837His
ENST00000587552.5:n.2591G>C
ENST00000589473.1:c.727G>C	ENSP00000468379.1:p.Gly243Arg
ENST00000590558.5:c.2660G>C	ENSP00000467808.1:n.2660G>C
ENST00000590729.5:c.2463G>C	ENSP00000465139.1:p.Gln821His
ENST00000593119.5:c.2661G>C	ENSP00000468541.1:p.Gln887His
NM_001276479.1:c.2661G>C	NP_001263408.1:p.Gln887His
NM_001276480.1:c.2265G>C	NP_001263409.1:p.Gln755His
NM_004793.3:c.2853G>C	NP_004784.2:p.Gln951His
NR_076392.1:n.2677G>C
NM_001276479.2:c.2661G>C	NP_001263408.1:p.Gln887His
NM_004793.4:c.2853G>C MANE Select	NP_004784.2:p.Gln951His
NR_076392.2:n.2658G>C