Canonical Allele Identifier: CA1315746045

Gene: ORMDL1 PMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784329G= , CM000664.2:g.189784329G=	GRCh38
NC_000002.11:g.190649055G= , CM000664.1:g.190649055G=	GRCh37
NC_000002.10:g.190357300G=	NCBI36
NG_008648.1:g.5245G= , LRG_221:g.5245G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392349.9:c.-178C= (ORMDL1) MANE Select	ENSP00000376160.4:n.-178C=
ENST00000639501.1:c.-285G= (PMS1)	ENSP00000491236.1:n.-285G=
ENST00000392349.8:c.-178C= (ORMDL1)	ENSP00000376160.4:n.-178C=
ENST00000392350.7:c.-68C= (ORMDL1)	ENSP00000376161.3:n.-68C=
ENST00000418224.7:c.-285G= (PMS1)	ENSP00000404492.4:n.-285G=
ENST00000432292.7:c.-527G= (PMS1)	ENSP00000398378.3:n.-527G=
ENST00000618056.4:c.-285G= (PMS1)	ENSP00000480632.1:n.-285G=
ENST00000624204.3:c.-710G= (PMS1)	ENSP00000485312.1:n.-710G=
NM_000534.4:c.-285G= , LRG_221t1:c.-285G= (PMS1)	NP_000525.1:n.-285G=
NM_001128143.1:c.-285G= (PMS1)	NP_001121615.1:n.-285G=
NM_001128144.1:c.-285G= (PMS1)	NP_001121616.1:n.-285G=
NM_001128150.1:c.-68C= (ORMDL1)	NP_001121622.1:n.-68C=
NM_001289408.1:c.-710G= (PMS1)	NP_001276337.1:n.-710G=
NM_001289409.1:c.-527G= (PMS1)	NP_001276338.1:n.-527G=
NM_016467.4:c.-178C= (ORMDL1)	NP_057551.1:n.-178C=
NR_110332.1:n.245G= (PMS1)
NM_001321044.1:c.-285G= (PMS1)	NP_001307973.1:n.-285G=
NM_001321045.1:c.-411G= (PMS1)	NP_001307974.1:n.-411G=
NM_001321046.1:c.-285G= (PMS1)	NP_001307975.1:n.-285G=
NM_001321047.1:c.-462G= (PMS1)	NP_001307976.1:n.-462G=
NM_001321048.1:c.-382G= (PMS1)	NP_001307977.1:n.-382G=
NM_001321049.1:c.-285G= (PMS1)	NP_001307978.1:n.-285G=
NM_001321051.1:c.-285G= (PMS1)	NP_001307980.1:n.-285G=
XM_011512199.3:c.-68C= (ORMDL1)	XP_011510501.1:n.-68C=
XM_024452965.1:c.-256G= (PMS1)	XP_024308733.1:n.-256G=
NM_016467.5:c.-178C= (ORMDL1) MANE Select	NP_057551.1:n.-178C=
NM_001128150.2:c.-68C= (ORMDL1)	NP_001121622.1:n.-68C=
NM_001371384.1:c.-68C= (ORMDL1)	NP_001358313.1:n.-68C=
NM_001371385.1:c.-68C= (ORMDL1)	NP_001358314.1:n.-68C=
NM_001371386.1:c.-178C= (ORMDL1)	NP_001358315.1:n.-178C=
NM_001371387.1:c.-68C= (ORMDL1)	NP_001358316.1:n.-68C=
NR_163942.1:n.11C= (ORMDL1)