Canonical Allele Identifier: CA9113989

Gene: LONP1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.5692201C>T , CM000681.2:g.5692201C>T	GRCh38
NC_000019.9:g.5692212C>T , CM000681.1:g.5692212C>T	GRCh37
NC_000019.8:g.5643212C>T	NCBI36
NG_017015.1:g.6941C>T
NG_033142.1:g.33252G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360614.8:c.2711G>A MANE Select	ENSP00000353826.2:p.Arg904His
ENST00000360614.7:c.2711G>A	ENSP00000353826.2:p.Arg904His
ENST00000540670.6:c.2123G>A	ENSP00000441523.1:p.Arg708His
ENST00000585374.5:c.2369G>A	ENSP00000465585.1:p.Arg790His
ENST00000587552.5:n.2449G>A
ENST00000589473.1:c.585G>A	ENSP00000468379.1:p.Ala195=
ENST00000590558.5:c.2518G>A	ENSP00000467808.1:n.2518G>A
ENST00000590729.5:c.2321G>A	ENSP00000465139.1:p.Arg774His
ENST00000593119.5:c.2519G>A	ENSP00000468541.1:p.Arg840His
NM_001276479.1:c.2519G>A	NP_001263408.1:p.Arg840His
NM_001276480.1:c.2123G>A	NP_001263409.1:p.Arg708His
NM_004793.3:c.2711G>A	NP_004784.2:p.Arg904His
NR_076392.1:n.2535G>A
NM_001276479.2:c.2519G>A	NP_001263408.1:p.Arg840His
NM_004793.4:c.2711G>A MANE Select	NP_004784.2:p.Arg904His
NR_076392.2:n.2516G>A