Canonical Allele Identifier: CA16608398
Gene: LONP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 383570
ClinVar RCV Id: RCV000419929
dbSNP Id: rs1057521679
gnomAD v4: 19-5696059-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.5696059C>A , CM000681.2:g.5696059C>A GRCh38
NC_000019.9:g.5696070C>A , CM000681.1:g.5696070C>A GRCh37
NC_000019.8:g.5647070C>A NCBI36
NG_033142.1:g.29394G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360614.8:c.2008G>T MANE Select ENSP00000353826.2:p.Ala670Ser
ENST00000360614.7:c.2008G>T ENSP00000353826.2:p.Ala670Ser
ENST00000540670.6:c.1420G>T ENSP00000441523.1:p.Ala474Ser
ENST00000585374.5:c.1666G>T ENSP00000465585.1:p.Ala556Ser
ENST00000587552.5:n.1746G>T
ENST00000590558.5:c.1815G>T ENSP00000467808.1:n.1815G>T
ENST00000590729.5:c.1618G>T ENSP00000465139.1:p.Ala540Ser
ENST00000593119.5:c.1816G>T ENSP00000468541.1:p.Ala606Ser
NM_001276479.1:c.1816G>T NP_001263408.1:p.Ala606Ser
NM_001276480.1:c.1420G>T NP_001263409.1:p.Ala474Ser
NM_004793.3:c.2008G>T NP_004784.2:p.Ala670Ser
NR_076392.1:n.1832G>T
NM_001276479.2:c.1816G>T NP_001263408.1:p.Ala606Ser
NM_004793.4:c.2008G>T MANE Select NP_004784.2:p.Ala670Ser
NR_076392.2:n.1813G>T