Canonical Allele Identifier: CA403528744

Gene: LONP1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.5696074C>G , CM000681.2:g.5696074C>G	GRCh38
NC_000019.9:g.5696085C>G , CM000681.1:g.5696085C>G	GRCh37
NC_000019.8:g.5647085C>G	NCBI36
NG_033142.1:g.29379G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004793.4:c.1993G>C MANE Select	NP_004784.2:p.Glu665Gln
ENST00000360614.8:c.1993G>C MANE Select	ENSP00000353826.2:p.Glu665Gln
NM_001276479.1:c.1801G>C	NP_001263408.1:p.Glu601Gln
NM_001276479.2:c.1801G>C	NP_001263408.1:p.Glu601Gln
NM_001276480.1:c.1405G>C	NP_001263409.1:p.Glu469Gln
NM_004793.3:c.1993G>C	NP_004784.2:p.Glu665Gln
NR_076392.1:n.1817G>C
NR_076392.2:n.1798G>C
ENST00000360614.7:c.1993G>C	ENSP00000353826.2:p.Glu665Gln
ENST00000540670.6:c.1405G>C	ENSP00000441523.1:p.Glu469Gln
ENST00000585374.5:c.1651G>C	ENSP00000465585.1:p.Glu551Gln
ENST00000587552.5:n.1731G>C
ENST00000590558.5:c.1800G>C	ENSP00000467808.1:n.1800G>C
ENST00000590729.5:c.1603G>C	ENSP00000465139.1:p.Glu535Gln
ENST00000593119.5:c.1801G>C	ENSP00000468541.1:p.Glu601Gln