Canonical Allele Identifier: CA2662343380

Gene: PMS1 ORMDL1

Linked Data

• gnomAD v4: 2-189784370-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784370C>A , CM000664.2:g.189784370C>A	GRCh38
NC_000002.11:g.190649096C>A , CM000664.1:g.190649096C>A	GRCh37
NC_000002.10:g.190357341C>A	NCBI36
NG_008648.1:g.5286C>A , LRG_221:g.5286C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639501.1:c.-244C>A (PMS1)	ENSP00000491236.1:n.-244C>A
ENST00000392349.8:c.-219G>T (ORMDL1)	ENSP00000376160.4:n.-219G>T
ENST00000418224.7:c.-244C>A (PMS1)	ENSP00000404492.4:n.-244C>A
ENST00000432292.7:c.-486C>A (PMS1)	ENSP00000398378.3:n.-486C>A
ENST00000618056.4:c.-244C>A (PMS1)	ENSP00000480632.1:n.-244C>A
ENST00000624204.3:c.-669C>A (PMS1)	ENSP00000485312.1:n.-669C>A
NM_000534.4:c.-244C>A , LRG_221t1:c.-244C>A (PMS1)	NP_000525.1:n.-244C>A
NM_001128143.1:c.-244C>A (PMS1)	NP_001121615.1:n.-244C>A
NM_001128144.1:c.-244C>A (PMS1)	NP_001121616.1:n.-244C>A
NM_001128150.1:c.-109G>T (ORMDL1)	NP_001121622.1:n.-109G>T
NM_001289408.1:c.-669C>A (PMS1)	NP_001276337.1:n.-669C>A
NM_001289409.1:c.-486C>A (PMS1)	NP_001276338.1:n.-486C>A
NM_016467.4:c.-219G>T (ORMDL1)	NP_057551.1:n.-219G>T
NR_110332.1:n.286C>A (PMS1)
NM_001321044.1:c.-244C>A (PMS1)	NP_001307973.1:n.-244C>A
NM_001321045.1:c.-370C>A (PMS1)	NP_001307974.1:n.-370C>A
NM_001321046.1:c.-244C>A (PMS1)	NP_001307975.1:n.-244C>A
NM_001321047.1:c.-421C>A (PMS1)	NP_001307976.1:n.-421C>A
NM_001321048.1:c.-341C>A (PMS1)	NP_001307977.1:n.-341C>A
NM_001321049.1:c.-244C>A (PMS1)	NP_001307978.1:n.-244C>A
NM_001321051.1:c.-244C>A (PMS1)	NP_001307980.1:n.-244C>A
XM_024452965.1:c.-215C>A (PMS1)	XP_024308733.1:n.-215C>A