Canonical Allele Identifier: CA1315746079

Gene: PMS1 ORMDL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784364C= , CM000664.2:g.189784364C=	GRCh38
NC_000002.11:g.190649090C= , CM000664.1:g.190649090C=	GRCh37
NC_000002.10:g.190357335C=	NCBI36
NG_008648.1:g.5280C= , LRG_221:g.5280C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639501.1:c.-250C= (PMS1)	ENSP00000491236.1:n.-250C=
ENST00000392349.8:c.-213G= (ORMDL1)	ENSP00000376160.4:n.-213G=
ENST00000392350.7:c.-103G= (ORMDL1)	ENSP00000376161.3:n.-103G=
ENST00000418224.7:c.-250C= (PMS1)	ENSP00000404492.4:n.-250C=
ENST00000432292.7:c.-492C= (PMS1)	ENSP00000398378.3:n.-492C=
ENST00000618056.4:c.-250C= (PMS1)	ENSP00000480632.1:n.-250C=
ENST00000624204.3:c.-675C= (PMS1)	ENSP00000485312.1:n.-675C=
NM_000534.4:c.-250C= , LRG_221t1:c.-250C= (PMS1)	NP_000525.1:n.-250C=
NM_001128143.1:c.-250C= (PMS1)	NP_001121615.1:n.-250C=
NM_001128144.1:c.-250C= (PMS1)	NP_001121616.1:n.-250C=
NM_001128150.1:c.-103G= (ORMDL1)	NP_001121622.1:n.-103G=
NM_001289408.1:c.-675C= (PMS1)	NP_001276337.1:n.-675C=
NM_001289409.1:c.-492C= (PMS1)	NP_001276338.1:n.-492C=
NM_016467.4:c.-213G= (ORMDL1)	NP_057551.1:n.-213G=
NR_110332.1:n.280C= (PMS1)
NM_001321044.1:c.-250C= (PMS1)	NP_001307973.1:n.-250C=
NM_001321045.1:c.-376C= (PMS1)	NP_001307974.1:n.-376C=
NM_001321046.1:c.-250C= (PMS1)	NP_001307975.1:n.-250C=
NM_001321047.1:c.-427C= (PMS1)	NP_001307976.1:n.-427C=
NM_001321048.1:c.-347C= (PMS1)	NP_001307977.1:n.-347C=
NM_001321049.1:c.-250C= (PMS1)	NP_001307978.1:n.-250C=
NM_001321051.1:c.-250C= (PMS1)	NP_001307980.1:n.-250C=
XM_024452965.1:c.-221C= (PMS1)	XP_024308733.1:n.-221C=