Canonical Allele Identifier: CA2662343363

Gene: PMS1 ORMDL1

Linked Data

• gnomAD v4: 2-189784347-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784347C>T , CM000664.2:g.189784347C>T	GRCh38
NC_000002.11:g.190649073C>T , CM000664.1:g.190649073C>T	GRCh37
NC_000002.10:g.190357318C>T	NCBI36
NG_008648.1:g.5263C>T , LRG_221:g.5263C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639501.1:c.-267C>T (PMS1)	ENSP00000491236.1:n.-267C>T
ENST00000392349.8:c.-196G>A (ORMDL1)	ENSP00000376160.4:n.-196G>A
ENST00000392350.7:c.-86G>A (ORMDL1)	ENSP00000376161.3:n.-86G>A
ENST00000418224.7:c.-267C>T (PMS1)	ENSP00000404492.4:n.-267C>T
ENST00000432292.7:c.-509C>T (PMS1)	ENSP00000398378.3:n.-509C>T
ENST00000618056.4:c.-267C>T (PMS1)	ENSP00000480632.1:n.-267C>T
ENST00000624204.3:c.-692C>T (PMS1)	ENSP00000485312.1:n.-692C>T
NM_000534.4:c.-267C>T , LRG_221t1:c.-267C>T (PMS1)	NP_000525.1:n.-267C>T
NM_001128143.1:c.-267C>T (PMS1)	NP_001121615.1:n.-267C>T
NM_001128144.1:c.-267C>T (PMS1)	NP_001121616.1:n.-267C>T
NM_001128150.1:c.-86G>A (ORMDL1)	NP_001121622.1:n.-86G>A
NM_001289408.1:c.-692C>T (PMS1)	NP_001276337.1:n.-692C>T
NM_001289409.1:c.-509C>T (PMS1)	NP_001276338.1:n.-509C>T
NM_016467.4:c.-196G>A (ORMDL1)	NP_057551.1:n.-196G>A
NR_110332.1:n.263C>T (PMS1)
NM_001321044.1:c.-267C>T (PMS1)	NP_001307973.1:n.-267C>T
NM_001321045.1:c.-393C>T (PMS1)	NP_001307974.1:n.-393C>T
NM_001321046.1:c.-267C>T (PMS1)	NP_001307975.1:n.-267C>T
NM_001321047.1:c.-444C>T (PMS1)	NP_001307976.1:n.-444C>T
NM_001321048.1:c.-364C>T (PMS1)	NP_001307977.1:n.-364C>T
NM_001321049.1:c.-267C>T (PMS1)	NP_001307978.1:n.-267C>T
NM_001321051.1:c.-267C>T (PMS1)	NP_001307980.1:n.-267C>T
XM_011512199.3:c.-86G>A (ORMDL1)	XP_011510501.1:n.-86G>A
XM_024452965.1:c.-238C>T (PMS1)	XP_024308733.1:n.-238C>T