Canonical Allele Identifier: CA14695875
Community Standard Title: NM_004793.4(LONP1):c.1367+166A>G
Gene: LONP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.5705606T>C , CM000681.2:g.5705606T>C GRCh38
NC_000019.9:g.5705617T>C , CM000681.1:g.5705617T>C GRCh37
NC_000019.8:g.5656617T>C NCBI36
NG_033142.1:g.19847A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004793.4:c.1367+166A>G MANE Select NP_004784.2:n.1367+166A>G
ENST00000360614.8:c.1367+166A>G MANE Select ENSP00000353826.2:n.1367+166A>G
NM_001276479.1:c.1175+166A>G NP_001263408.1:n.1175+166A>G
NM_001276479.2:c.1175+166A>G NP_001263408.1:n.1175+166A>G
NM_001276480.1:c.779+166A>G NP_001263409.1:n.779+166A>G
NM_004793.3:c.1367+166A>G NP_004784.2:n.1367+166A>G
NR_076392.1:n.1191+166A>G
NR_076392.2:n.1172+166A>G
ENST00000360614.7:c.1367+166A>G ENSP00000353826.2:n.1367+166A>G
ENST00000540670.6:c.779+166A>G ENSP00000441523.1:n.779+166A>G
ENST00000585374.5:c.1025+166A>G ENSP00000465585.1:n.1025+166A>G
ENST00000587365.1:c.611+166A>G ENSP00000468114.1:n.611+166A>G
ENST00000587552.5:n.807+166A>G
ENST00000588589.5:n.641+166A>G
ENST00000590206.1:c.336+166A>G
ENST00000590558.5:c.1174+166A>G ENSP00000467808.1:n.1174+166A>G
ENST00000590729.5:c.977+166A>G ENSP00000465139.1:n.977+166A>G
ENST00000593119.5:c.1175+166A>G ENSP00000468541.1:n.1175+166A>G
XM_011528441.1:c.1367+166A>G XP_011526743.1:n.1367+166A>G
XM_011528441.3:c.1367+166A>G XP_011526743.1:n.1367+166A>G