Canonical Allele Identifier: CA2662343339

Gene: ORMDL1 PMS1

Linked Data

• gnomAD v4: 2-189784310-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784310C>A , CM000664.2:g.189784310C>A	GRCh38
NC_000002.11:g.190649036C>A , CM000664.1:g.190649036C>A	GRCh37
NC_000002.10:g.190357281C>A	NCBI36
NG_008648.1:g.5226C>A , LRG_221:g.5226C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392349.9:c.-159G>T (ORMDL1) MANE Select	ENSP00000376160.4:n.-159G>T
ENST00000639501.1:c.-304C>A (PMS1)	ENSP00000491236.1:n.-304C>A
ENST00000392349.8:c.-159G>T (ORMDL1)	ENSP00000376160.4:n.-159G>T
ENST00000392350.7:c.-49G>T (ORMDL1)	ENSP00000376161.3:n.-49G>T
ENST00000409519.5:c.-49G>T (ORMDL1)	ENSP00000386253.1:n.-49G>T
ENST00000418224.7:c.-304C>A (PMS1)	ENSP00000404492.4:n.-304C>A
ENST00000432292.7:c.-546C>A (PMS1)	ENSP00000398378.3:n.-546C>A
ENST00000458355.1:c.-570G>T (ORMDL1)	ENSP00000402074.1:n.-570G>T
ENST00000618056.4:c.-304C>A (PMS1)	ENSP00000480632.1:n.-304C>A
ENST00000624204.3:c.-729C>A (PMS1)	ENSP00000485312.1:n.-729C>A
NM_000534.4:c.-304C>A , LRG_221t1:c.-304C>A (PMS1)	NP_000525.1:n.-304C>A
NM_001128143.1:c.-304C>A (PMS1)	NP_001121615.1:n.-304C>A
NM_001128144.1:c.-304C>A (PMS1)	NP_001121616.1:n.-304C>A
NM_001128150.1:c.-49G>T (ORMDL1)	NP_001121622.1:n.-49G>T
NM_001289408.1:c.-729C>A (PMS1)	NP_001276337.1:n.-729C>A
NM_001289409.1:c.-546C>A (PMS1)	NP_001276338.1:n.-546C>A
NM_016467.4:c.-159G>T (ORMDL1)	NP_057551.1:n.-159G>T
NR_110332.1:n.226C>A (PMS1)
NM_001321044.1:c.-304C>A (PMS1)	NP_001307973.1:n.-304C>A
NM_001321045.1:c.-430C>A (PMS1)	NP_001307974.1:n.-430C>A
NM_001321046.1:c.-304C>A (PMS1)	NP_001307975.1:n.-304C>A
NM_001321047.1:c.-481C>A (PMS1)	NP_001307976.1:n.-481C>A
NM_001321048.1:c.-401C>A (PMS1)	NP_001307977.1:n.-401C>A
NM_001321049.1:c.-304C>A (PMS1)	NP_001307978.1:n.-304C>A
NM_001321051.1:c.-304C>A (PMS1)	NP_001307980.1:n.-304C>A
XM_011512199.3:c.-49G>T (ORMDL1)	XP_011510501.1:n.-49G>T
XM_024452965.1:c.-275C>A (PMS1)	XP_024308733.1:n.-275C>A
NM_016467.5:c.-159G>T (ORMDL1) MANE Select	NP_057551.1:n.-159G>T
NM_001128150.2:c.-49G>T (ORMDL1)	NP_001121622.1:n.-49G>T
NM_001371384.1:c.-49G>T (ORMDL1)	NP_001358313.1:n.-49G>T
NM_001371385.1:c.-49G>T (ORMDL1)	NP_001358314.1:n.-49G>T
NM_001371386.1:c.-159G>T (ORMDL1)	NP_001358315.1:n.-159G>T
NM_001371387.1:c.-49G>T (ORMDL1)	NP_001358316.1:n.-49G>T
NR_163942.1:n.30G>T (ORMDL1)