Canonical Allele Identifier: CA392471822

Gene: LEO1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.51951888T>C , CM000677.2:g.51951888T>C	GRCh38
NC_000015.9:g.52244085T>C , CM000677.1:g.52244085T>C	GRCh37
NC_000015.8:g.50031377T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299601.10:c.1567A>G MANE Select	ENSP00000299601.5:p.Met523Val
ENST00000299601.9:c.1567A>G	ENSP00000299601.5:p.Met523Val
ENST00000315141.5:c.1387A>G	ENSP00000314610.5:p.Met463Val
NM_001286430.1:c.1387A>G	NP_001273359.1:p.Met463Val
NM_138792.3:c.1567A>G	NP_620147.1:p.Met523Val
XM_011521211.1:c.1567A>G	XP_011519513.1:p.Met523Val
NM_001323903.1:c.1567A>G	NP_001310832.1:p.Met523Val
NM_001323904.1:c.1567A>G	NP_001310833.1:p.Met523Val
XM_017021911.1:c.1567A>G	XP_016877400.1:p.Met523Val
NM_138792.4:c.1567A>G MANE Select	NP_620147.1:p.Met523Val
NM_001323904.2:c.1567A>G	NP_001310833.1:p.Met523Val
NM_001286430.2:c.1387A>G	NP_001273359.1:p.Met463Val
NM_001323903.2:c.1567A>G	NP_001310832.1:p.Met523Val