Canonical Allele Identifier: CA1315746078

Gene: PMS1 ORMDL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784362T= , CM000664.2:g.189784362T=	GRCh38
NC_000002.11:g.190649088T= , CM000664.1:g.190649088T=	GRCh37
NC_000002.10:g.190357333T=	NCBI36
NG_008648.1:g.5278T= , LRG_221:g.5278T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639501.1:c.-252T= (PMS1)	ENSP00000491236.1:n.-252T=
ENST00000392349.8:c.-211A= (ORMDL1)	ENSP00000376160.4:n.-211A=
ENST00000392350.7:c.-101A= (ORMDL1)	ENSP00000376161.3:n.-101A=
ENST00000418224.7:c.-252T= (PMS1)	ENSP00000404492.4:n.-252T=
ENST00000432292.7:c.-494T= (PMS1)	ENSP00000398378.3:n.-494T=
ENST00000618056.4:c.-252T= (PMS1)	ENSP00000480632.1:n.-252T=
ENST00000624204.3:c.-677T= (PMS1)	ENSP00000485312.1:n.-677T=
NM_000534.4:c.-252T= , LRG_221t1:c.-252T= (PMS1)	NP_000525.1:n.-252T=
NM_001128143.1:c.-252T= (PMS1)	NP_001121615.1:n.-252T=
NM_001128144.1:c.-252T= (PMS1)	NP_001121616.1:n.-252T=
NM_001128150.1:c.-101A= (ORMDL1)	NP_001121622.1:n.-101A=
NM_001289408.1:c.-677T= (PMS1)	NP_001276337.1:n.-677T=
NM_001289409.1:c.-494T= (PMS1)	NP_001276338.1:n.-494T=
NM_016467.4:c.-211A= (ORMDL1)	NP_057551.1:n.-211A=
NR_110332.1:n.278T= (PMS1)
NM_001321044.1:c.-252T= (PMS1)	NP_001307973.1:n.-252T=
NM_001321045.1:c.-378T= (PMS1)	NP_001307974.1:n.-378T=
NM_001321046.1:c.-252T= (PMS1)	NP_001307975.1:n.-252T=
NM_001321047.1:c.-429T= (PMS1)	NP_001307976.1:n.-429T=
NM_001321048.1:c.-349T= (PMS1)	NP_001307977.1:n.-349T=
NM_001321049.1:c.-252T= (PMS1)	NP_001307978.1:n.-252T=
NM_001321051.1:c.-252T= (PMS1)	NP_001307980.1:n.-252T=
XM_011512199.3:c.-101A= (ORMDL1)	XP_011510501.1:n.-101A=
XM_024452965.1:c.-223T= (PMS1)	XP_024308733.1:n.-223T=