Canonical Allele Identifier: CA14652974
Community Standard Title: NM_004793.4(LONP1):c.1367+136C>T
Gene: LONP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.5705636G>A , CM000681.2:g.5705636G>A GRCh38
NC_000019.9:g.5705647G>A , CM000681.1:g.5705647G>A GRCh37
NC_000019.8:g.5656647G>A NCBI36
NG_033142.1:g.19817C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004793.4:c.1367+136C>T MANE Select NP_004784.2:n.1367+136C>T
ENST00000360614.8:c.1367+136C>T MANE Select ENSP00000353826.2:n.1367+136C>T
NM_001276479.1:c.1175+136C>T NP_001263408.1:n.1175+136C>T
NM_001276479.2:c.1175+136C>T NP_001263408.1:n.1175+136C>T
NM_001276480.1:c.779+136C>T NP_001263409.1:n.779+136C>T
NM_004793.3:c.1367+136C>T NP_004784.2:n.1367+136C>T
NR_076392.1:n.1191+136C>T
NR_076392.2:n.1172+136C>T
ENST00000360614.7:c.1367+136C>T ENSP00000353826.2:n.1367+136C>T
ENST00000540670.6:c.779+136C>T ENSP00000441523.1:n.779+136C>T
ENST00000585374.5:c.1025+136C>T ENSP00000465585.1:n.1025+136C>T
ENST00000587365.1:c.611+136C>T ENSP00000468114.1:n.611+136C>T
ENST00000587552.5:n.807+136C>T
ENST00000588589.5:n.641+136C>T
ENST00000590206.1:c.336+136C>T
ENST00000590558.5:c.1174+136C>T ENSP00000467808.1:n.1174+136C>T
ENST00000590729.5:c.977+136C>T ENSP00000465139.1:n.977+136C>T
ENST00000593119.5:c.1175+136C>T ENSP00000468541.1:n.1175+136C>T
XM_011528441.1:c.1367+136C>T XP_011526743.1:n.1367+136C>T
XM_011528441.3:c.1367+136C>T XP_011526743.1:n.1367+136C>T