Canonical Allele Identifier: CA2662343377

Gene: PMS1 ORMDL1

Linked Data

• gnomAD v4: 2-189784360-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784360C>T , CM000664.2:g.189784360C>T	GRCh38
NC_000002.11:g.190649086C>T , CM000664.1:g.190649086C>T	GRCh37
NC_000002.10:g.190357331C>T	NCBI36
NG_008648.1:g.5276C>T , LRG_221:g.5276C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639501.1:c.-254C>T (PMS1)	ENSP00000491236.1:n.-254C>T
ENST00000392349.8:c.-209G>A (ORMDL1)	ENSP00000376160.4:n.-209G>A
ENST00000392350.7:c.-99G>A (ORMDL1)	ENSP00000376161.3:n.-99G>A
ENST00000418224.7:c.-254C>T (PMS1)	ENSP00000404492.4:n.-254C>T
ENST00000432292.7:c.-496C>T (PMS1)	ENSP00000398378.3:n.-496C>T
ENST00000618056.4:c.-254C>T (PMS1)	ENSP00000480632.1:n.-254C>T
ENST00000624204.3:c.-679C>T (PMS1)	ENSP00000485312.1:n.-679C>T
NM_000534.4:c.-254C>T , LRG_221t1:c.-254C>T (PMS1)	NP_000525.1:n.-254C>T
NM_001128143.1:c.-254C>T (PMS1)	NP_001121615.1:n.-254C>T
NM_001128144.1:c.-254C>T (PMS1)	NP_001121616.1:n.-254C>T
NM_001128150.1:c.-99G>A (ORMDL1)	NP_001121622.1:n.-99G>A
NM_001289408.1:c.-679C>T (PMS1)	NP_001276337.1:n.-679C>T
NM_001289409.1:c.-496C>T (PMS1)	NP_001276338.1:n.-496C>T
NM_016467.4:c.-209G>A (ORMDL1)	NP_057551.1:n.-209G>A
NR_110332.1:n.276C>T (PMS1)
NM_001321044.1:c.-254C>T (PMS1)	NP_001307973.1:n.-254C>T
NM_001321045.1:c.-380C>T (PMS1)	NP_001307974.1:n.-380C>T
NM_001321046.1:c.-254C>T (PMS1)	NP_001307975.1:n.-254C>T
NM_001321047.1:c.-431C>T (PMS1)	NP_001307976.1:n.-431C>T
NM_001321048.1:c.-351C>T (PMS1)	NP_001307977.1:n.-351C>T
NM_001321049.1:c.-254C>T (PMS1)	NP_001307978.1:n.-254C>T
NM_001321051.1:c.-254C>T (PMS1)	NP_001307980.1:n.-254C>T
XM_011512199.3:c.-99G>A (ORMDL1)	XP_011510501.1:n.-99G>A
XM_024452965.1:c.-225C>T (PMS1)	XP_024308733.1:n.-225C>T