Canonical Allele Identifier: CA403538512
Gene: LONP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.5711782C>A , CM000681.2:g.5711782C>A GRCh38
NC_000019.9:g.5711793C>A , CM000681.1:g.5711793C>A GRCh37
NC_000019.8:g.5662793C>A NCBI36
NG_033142.1:g.13671G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360614.8:c.859G>T MANE Select ENSP00000353826.2:p.Glu287Ter
ENST00000360614.7:c.859G>T ENSP00000353826.2:p.Glu287Ter
ENST00000540670.6:c.271G>T ENSP00000441523.1:p.Glu91Ter
ENST00000585374.5:c.517G>T ENSP00000465585.1:p.Glu173Ter
ENST00000586617.1:c.*108G>T ENSP00000468385.1:n.*108G>T
ENST00000587365.1:c.435+681G>T ENSP00000468114.1:n.435+681G>T
ENST00000587552.5:n.310+1352G>T
ENST00000590558.5:c.666G>T ENSP00000467808.1:n.666G>T
ENST00000590729.5:c.480+37G>T ENSP00000465139.1:n.480+37G>T
ENST00000593119.5:c.667G>T ENSP00000468541.1:p.Glu223Ter
NM_001276479.1:c.667G>T NP_001263408.1:p.Glu223Ter
NM_001276480.1:c.271G>T NP_001263409.1:p.Glu91Ter
NM_004793.3:c.859G>T NP_004784.2:p.Glu287Ter
NR_076392.1:n.683G>T
XM_011528441.1:c.859G>T XP_011526743.1:p.Glu287Ter
XM_011528441.3:c.859G>T XP_011526743.1:p.Glu287Ter
NM_001276479.2:c.667G>T NP_001263408.1:p.Glu223Ter
NM_004793.4:c.859G>T MANE Select NP_004784.2:p.Glu287Ter
NR_076392.2:n.664G>T