Canonical Allele Identifier: CA384066959

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.16551238G>A , CM000674.2:g.16551238G>A GRCh38
NC_000012.11:g.16704172G>A , CM000674.1:g.16704172G>A GRCh37
NC_000012.10:g.16595439G>A NCBI36
NG_029785.1:g.61977C>T
NG_029785.2:g.61977C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018640.5:c.422C>T (LMO3) MANE Select NP_061110.2:p.Ala141Val
ENST00000537304.6:c.422C>T (LMO3) MANE Select ENSP00000440099.1:p.Ala141Val
NM_001001395.2:c.422C>T (LMO3) NP_001001395.1:p.Ala141Val
NM_001243609.1:c.422C>T (LMO3) NP_001230538.1:p.Ala141Val
NM_001243610.1:c.422C>T (LMO3) NP_001230539.1:p.Ala141Val
NM_001243611.1:c.455C>T (LMO3) NP_001230540.1:p.Ala152Val
NM_001243612.1:c.476C>T (LMO3) NP_001230541.1:p.Ala159Val
NM_001243613.1:c.488C>T (LMO3) NP_001230542.1:p.Ala163Val
NM_018640.4:c.422C>T (LMO3) NP_061110.2:p.Ala141Val
NR_045012.1:n.901C>T (LMO3)
NR_045013.1:n.717C>T (LMO3)
NR_045014.1:n.650C>T (LMO3)
ENST00000261169.10:c.455C>T (LMO3) ENSP00000261169.6:p.Ala152Val
ENST00000320122.10:c.422C>T (LMO3) ENSP00000312856.6:p.Ala141Val
ENST00000354662.5:c.422C>T (LMO3) ENSP00000346689.1:p.Ala141Val
ENST00000396205.6:c.*266C>T (LMO3) ENSP00000379508.2:n.*266C>T
ENST00000424192.6:c.*334C>T (LMO3) ENSP00000404656.2:n.*334C>T
ENST00000441439.6:c.422C>T (LMO3) ENSP00000412479.2:p.Ala141Val
ENST00000447609.5:c.422C>T (LMO3) ENSP00000413703.1:p.Ala141Val
ENST00000453727.6:c.*180C>T (LMO3) ENSP00000404386.2:n.*180C>T
ENST00000534946.5:c.422C>T (LMO3) ENSP00000439275.1:p.Ala141Val
ENST00000535535.5:c.422C>T (LMO3) ENSP00000446115.1:p.Ala141Val
ENST00000536172.5:c.*180C>T (LMO3) ENSP00000440885.1:n.*180C>T
ENST00000537304.5:c.422C>T (LMO3) ENSP00000440099.1:p.Ala141Val
ENST00000538857.1:n.483-38290G>A (MGST1)
ENST00000539036.5:n.401-57856G>A (MGST1)
ENST00000540445.5:c.488C>T (LMO3) ENSP00000442786.1:p.Ala163Val
ENST00000540848.5:c.422C>T (LMO3) ENSP00000445751.1:p.Ala141Val
ENST00000541295.5:c.476C>T (LMO3) ENSP00000446463.1:p.Ala159Val
ENST00000541589.5:c.*180C>T (LMO3) ENSP00000440948.1:n.*180C>T
ENST00000541764.5:c.*517C>T (LMO3) ENSP00000437890.1:n.*517C>T
ENST00000541846.5:c.422C>T (LMO3) ENSP00000444393.1:p.Ala141Val
ENST00000544754.1:c.*266C>T (LMO3) ENSP00000439900.1:n.*266C>T
ENST00000616247.4:c.362C>T (LMO3) ENSP00000481643.1:p.Ala121Val
XM_006719110.2:c.422C>T (LMO3) XP_006719173.1:p.Ala141Val
XM_006719110.4:c.422C>T (LMO3) XP_006719173.1:p.Ala141Val
XM_006719111.2:c.422C>T (LMO3) XP_006719174.1:p.Ala141Val
XM_011520762.1:c.422C>T (LMO3) XP_011519064.1:p.Ala141Val
XM_011520763.1:c.422C>T (LMO3) XP_011519065.1:p.Ala141Val
XM_011520764.1:c.422C>T (LMO3) XP_011519066.1:p.Ala141Val
XM_011520765.1:c.362C>T (LMO3) XP_011519067.1:p.Ala121Val
XM_017019643.1:c.362C>T (LMO3) XP_016875132.1:p.Ala121Val
XM_024449058.1:c.422C>T (LMO3) XP_024304826.1:p.Ala141Val