Canonical Allele Identifier: CA1315746073

Gene: PMS1 ORMDL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784355C= , CM000664.2:g.189784355C=	GRCh38
NC_000002.11:g.190649081C= , CM000664.1:g.190649081C=	GRCh37
NC_000002.10:g.190357326C=	NCBI36
NG_008648.1:g.5271C= , LRG_221:g.5271C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639501.1:c.-259C= (PMS1)	ENSP00000491236.1:n.-259C=
ENST00000392349.8:c.-204G= (ORMDL1)	ENSP00000376160.4:n.-204G=
ENST00000392350.7:c.-94G= (ORMDL1)	ENSP00000376161.3:n.-94G=
ENST00000418224.7:c.-259C= (PMS1)	ENSP00000404492.4:n.-259C=
ENST00000432292.7:c.-501C= (PMS1)	ENSP00000398378.3:n.-501C=
ENST00000618056.4:c.-259C= (PMS1)	ENSP00000480632.1:n.-259C=
ENST00000624204.3:c.-684C= (PMS1)	ENSP00000485312.1:n.-684C=
NM_000534.4:c.-259C= , LRG_221t1:c.-259C= (PMS1)	NP_000525.1:n.-259C=
NM_001128143.1:c.-259C= (PMS1)	NP_001121615.1:n.-259C=
NM_001128144.1:c.-259C= (PMS1)	NP_001121616.1:n.-259C=
NM_001128150.1:c.-94G= (ORMDL1)	NP_001121622.1:n.-94G=
NM_001289408.1:c.-684C= (PMS1)	NP_001276337.1:n.-684C=
NM_001289409.1:c.-501C= (PMS1)	NP_001276338.1:n.-501C=
NM_016467.4:c.-204G= (ORMDL1)	NP_057551.1:n.-204G=
NR_110332.1:n.271C= (PMS1)
NM_001321044.1:c.-259C= (PMS1)	NP_001307973.1:n.-259C=
NM_001321045.1:c.-385C= (PMS1)	NP_001307974.1:n.-385C=
NM_001321046.1:c.-259C= (PMS1)	NP_001307975.1:n.-259C=
NM_001321047.1:c.-436C= (PMS1)	NP_001307976.1:n.-436C=
NM_001321048.1:c.-356C= (PMS1)	NP_001307977.1:n.-356C=
NM_001321049.1:c.-259C= (PMS1)	NP_001307978.1:n.-259C=
NM_001321051.1:c.-259C= (PMS1)	NP_001307980.1:n.-259C=
XM_011512199.3:c.-94G= (ORMDL1)	XP_011510501.1:n.-94G=
XM_024452965.1:c.-230C= (PMS1)	XP_024308733.1:n.-230C=