Canonical Allele Identifier: CA9114123

Gene: LONP1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.5693698C>T , CM000681.2:g.5693698C>T	GRCh38
NC_000019.9:g.5693709C>T , CM000681.1:g.5693709C>T	GRCh37
NC_000019.8:g.5644709C>T	NCBI36
NG_033142.1:g.31755G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004793.4:c.2392G>A MANE Select	NP_004784.2:p.Gly798Ser
ENST00000360614.8:c.2392G>A MANE Select	ENSP00000353826.2:p.Gly798Ser
NM_001276479.1:c.2200G>A	NP_001263408.1:p.Gly734Ser
NM_001276479.2:c.2200G>A	NP_001263408.1:p.Gly734Ser
NM_001276480.1:c.1804G>A	NP_001263409.1:p.Gly602Ser
NM_004793.3:c.2392G>A	NP_004784.2:p.Gly798Ser
NR_076392.1:n.2216G>A
NR_076392.2:n.2197G>A
ENST00000360614.7:c.2392G>A	ENSP00000353826.2:p.Gly798Ser
ENST00000540670.6:c.1804G>A	ENSP00000441523.1:p.Gly602Ser
ENST00000585374.5:c.2050G>A	ENSP00000465585.1:p.Gly684Ser
ENST00000587552.5:n.2130G>A
ENST00000589473.1:c.232G>A	ENSP00000468379.1:p.Gly78Ser
ENST00000590558.5:c.2199G>A	ENSP00000467808.1:n.2199G>A
ENST00000590729.5:c.2002G>A	ENSP00000465139.1:p.Gly668Ser
ENST00000593119.5:c.2200G>A	ENSP00000468541.1:p.Gly734Ser