Canonical Allele Identifier: CA10575679

Gene: LONP1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.5694889G>A , CM000681.2:g.5694889G>A	GRCh38
NC_000019.9:g.5694900G>A , CM000681.1:g.5694900G>A	GRCh37
NC_000019.8:g.5645900G>A	NCBI36
NG_033142.1:g.30564C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004793.4:c.2026C>T MANE Select	NP_004784.2:p.Pro676Ser
ENST00000360614.8:c.2026C>T MANE Select	ENSP00000353826.2:p.Pro676Ser
NM_001276479.1:c.1834C>T	NP_001263408.1:p.Pro612Ser
NM_001276479.2:c.1834C>T	NP_001263408.1:p.Pro612Ser
NM_001276480.1:c.1438C>T	NP_001263409.1:p.Pro480Ser
NM_004793.3:c.2026C>T	NP_004784.2:p.Pro676Ser
NR_076392.1:n.1850C>T
NR_076392.2:n.1831C>T
ENST00000360614.7:c.2026C>T	ENSP00000353826.2:p.Pro676Ser
ENST00000540670.6:c.1438C>T	ENSP00000441523.1:p.Pro480Ser
ENST00000585374.5:c.1684C>T	ENSP00000465585.1:p.Pro562Ser
ENST00000587552.5:n.1764C>T
ENST00000590558.5:c.1833C>T	ENSP00000467808.1:n.1833C>T
ENST00000590729.5:c.1636C>T	ENSP00000465139.1:p.Pro546Ser
ENST00000593119.5:c.1834C>T	ENSP00000468541.1:p.Pro612Ser