Canonical Allele Identifier: CA1315746016

Gene: ORMDL1 PMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784294C= , CM000664.2:g.189784294C=	GRCh38
NC_000002.11:g.190649020C= , CM000664.1:g.190649020C=	GRCh37
NC_000002.10:g.190357265C=	NCBI36
NG_008648.1:g.5210C= , LRG_221:g.5210C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392349.9:c.-143G= (ORMDL1) MANE Select	ENSP00000376160.4:n.-143G=
ENST00000639501.1:c.-320C= (PMS1)	ENSP00000491236.1:n.-320C=
ENST00000392349.8:c.-143G= (ORMDL1)	ENSP00000376160.4:n.-143G=
ENST00000392350.7:c.-33G= (ORMDL1)	ENSP00000376161.3:n.-33G=
ENST00000409519.5:c.-33G= (ORMDL1)	ENSP00000386253.1:n.-33G=
ENST00000418224.7:c.-320C= (PMS1)	ENSP00000404492.4:n.-320C=
ENST00000432292.7:c.-562C= (PMS1)	ENSP00000398378.3:n.-562C=
ENST00000458355.1:c.-554G= (ORMDL1)	ENSP00000402074.1:n.-554G=
ENST00000618056.4:c.-320C= (PMS1)	ENSP00000480632.1:n.-320C=
ENST00000624204.3:c.-745C= (PMS1)	ENSP00000485312.1:n.-745C=
NM_000534.4:c.-320C= , LRG_221t1:c.-320C= (PMS1)	NP_000525.1:n.-320C=
NM_001128143.1:c.-320C= (PMS1)	NP_001121615.1:n.-320C=
NM_001128144.1:c.-320C= (PMS1)	NP_001121616.1:n.-320C=
NM_001128150.1:c.-33G= (ORMDL1)	NP_001121622.1:n.-33G=
NM_001289408.1:c.-745C= (PMS1)	NP_001276337.1:n.-745C=
NM_001289409.1:c.-562C= (PMS1)	NP_001276338.1:n.-562C=
NM_016467.4:c.-143G= (ORMDL1)	NP_057551.1:n.-143G=
NR_110332.1:n.210C= (PMS1)
NM_001321044.1:c.-320C= (PMS1)	NP_001307973.1:n.-320C=
NM_001321045.1:c.-446C= (PMS1)	NP_001307974.1:n.-446C=
NM_001321046.1:c.-320C= (PMS1)	NP_001307975.1:n.-320C=
NM_001321047.1:c.-497C= (PMS1)	NP_001307976.1:n.-497C=
NM_001321048.1:c.-417C= (PMS1)	NP_001307977.1:n.-417C=
NM_001321049.1:c.-320C= (PMS1)	NP_001307978.1:n.-320C=
NM_001321051.1:c.-320C= (PMS1)	NP_001307980.1:n.-320C=
XM_011512199.3:c.-33G= (ORMDL1)	XP_011510501.1:n.-33G=
XM_024452965.1:c.-291C= (PMS1)	XP_024308733.1:n.-291C=
NM_016467.5:c.-143G= (ORMDL1) MANE Select	NP_057551.1:n.-143G=
NM_001128150.2:c.-33G= (ORMDL1)	NP_001121622.1:n.-33G=
NM_001371384.1:c.-33G= (ORMDL1)	NP_001358313.1:n.-33G=
NM_001371385.1:c.-33G= (ORMDL1)	NP_001358314.1:n.-33G=
NM_001371386.1:c.-143G= (ORMDL1)	NP_001358315.1:n.-143G=
NM_001371387.1:c.-33G= (ORMDL1)	NP_001358316.1:n.-33G=
NR_163942.1:n.46G= (ORMDL1)