Canonical Allele Identifier: CA304636045

Gene: LONP1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.5711717A>G , CM000681.2:g.5711717A>G	GRCh38
NC_000019.9:g.5711728A>G , CM000681.1:g.5711728A>G	GRCh37
NC_000019.8:g.5662728A>G	NCBI36
NG_033142.1:g.13736T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004793.4:c.870+54T>C MANE Select	NP_004784.2:n.870+54T>C
ENST00000360614.8:c.870+54T>C MANE Select	ENSP00000353826.2:n.870+54T>C
NM_001276479.1:c.678+54T>C	NP_001263408.1:n.678+54T>C
NM_001276479.2:c.678+54T>C	NP_001263408.1:n.678+54T>C
NM_001276480.1:c.282+54T>C	NP_001263409.1:n.282+54T>C
NM_004793.3:c.870+54T>C	NP_004784.2:n.870+54T>C
NR_076392.1:n.694+54T>C
NR_076392.2:n.675+54T>C
ENST00000360614.7:c.870+54T>C	ENSP00000353826.2:n.870+54T>C
ENST00000540670.6:c.282+54T>C	ENSP00000441523.1:n.282+54T>C
ENST00000585374.5:c.528+54T>C	ENSP00000465585.1:n.528+54T>C
ENST00000586617.1:c.*119+54T>C	ENSP00000468385.1:n.*119+54T>C
ENST00000587365.1:c.435+746T>C	ENSP00000468114.1:n.435+746T>C
ENST00000587552.5:n.310+1417T>C
ENST00000590558.5:c.677+54T>C	ENSP00000467808.1:n.677+54T>C
ENST00000590729.5:c.480+102T>C	ENSP00000465139.1:n.480+102T>C
ENST00000593119.5:c.678+54T>C	ENSP00000468541.1:n.678+54T>C
XM_011528441.1:c.870+54T>C	XP_011526743.1:n.870+54T>C
XM_011528441.3:c.870+54T>C	XP_011526743.1:n.870+54T>C