Canonical Allele Identifier: CA9114446

Gene: LONP1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.5696264G>A , CM000681.2:g.5696264G>A	GRCh38
NC_000019.9:g.5696275G>A , CM000681.1:g.5696275G>A	GRCh37
NC_000019.8:g.5647275G>A	NCBI36
NG_033142.1:g.29189C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004793.4:c.1881C>T MANE Select	NP_004784.2:p.Pro627=
ENST00000360614.8:c.1881C>T MANE Select	ENSP00000353826.2:p.Pro627=
NM_001276479.1:c.1689C>T	NP_001263408.1:p.Pro563=
NM_001276479.2:c.1689C>T	NP_001263408.1:p.Pro563=
NM_001276480.1:c.1293C>T	NP_001263409.1:p.Pro431=
NM_004793.3:c.1881C>T	NP_004784.2:p.Pro627=
NR_076392.1:n.1705C>T
NR_076392.2:n.1686C>T
ENST00000360614.7:c.1881C>T	ENSP00000353826.2:p.Pro627=
ENST00000540670.6:c.1293C>T	ENSP00000441523.1:p.Pro431=
ENST00000585374.5:c.1539C>T	ENSP00000465585.1:p.Pro513=
ENST00000587552.5:n.1619C>T
ENST00000590558.5:c.1688C>T	ENSP00000467808.1:n.1688C>T
ENST00000590729.5:c.1491C>T	ENSP00000465139.1:p.Pro497=
ENST00000593119.5:c.1689C>T	ENSP00000468541.1:p.Pro563=