Canonical Allele Identifier: CA2662343347

Gene: ORMDL1 PMS1

Linked Data

• dbSNP Id: rs2048044317
• gnomAD v4: 2-189784319-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784319T>C , CM000664.2:g.189784319T>C	GRCh38
NC_000002.11:g.190649045T>C , CM000664.1:g.190649045T>C	GRCh37
NC_000002.10:g.190357290T>C	NCBI36
NG_008648.1:g.5235T>C , LRG_221:g.5235T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392349.9:c.-168A>G (ORMDL1) MANE Select	ENSP00000376160.4:n.-168A>G
ENST00000639501.1:c.-295T>C (PMS1)	ENSP00000491236.1:n.-295T>C
ENST00000392349.8:c.-168A>G (ORMDL1)	ENSP00000376160.4:n.-168A>G
ENST00000392350.7:c.-58A>G (ORMDL1)	ENSP00000376161.3:n.-58A>G
ENST00000418224.7:c.-295T>C (PMS1)	ENSP00000404492.4:n.-295T>C
ENST00000432292.7:c.-537T>C (PMS1)	ENSP00000398378.3:n.-537T>C
ENST00000458355.1:c.-579A>G (ORMDL1)	ENSP00000402074.1:n.-579A>G
ENST00000618056.4:c.-295T>C (PMS1)	ENSP00000480632.1:n.-295T>C
ENST00000624204.3:c.-720T>C (PMS1)	ENSP00000485312.1:n.-720T>C
NM_000534.4:c.-295T>C , LRG_221t1:c.-295T>C (PMS1)	NP_000525.1:n.-295T>C
NM_001128143.1:c.-295T>C (PMS1)	NP_001121615.1:n.-295T>C
NM_001128144.1:c.-295T>C (PMS1)	NP_001121616.1:n.-295T>C
NM_001128150.1:c.-58A>G (ORMDL1)	NP_001121622.1:n.-58A>G
NM_001289408.1:c.-720T>C (PMS1)	NP_001276337.1:n.-720T>C
NM_001289409.1:c.-537T>C (PMS1)	NP_001276338.1:n.-537T>C
NM_016467.4:c.-168A>G (ORMDL1)	NP_057551.1:n.-168A>G
NR_110332.1:n.235T>C (PMS1)
NM_001321044.1:c.-295T>C (PMS1)	NP_001307973.1:n.-295T>C
NM_001321045.1:c.-421T>C (PMS1)	NP_001307974.1:n.-421T>C
NM_001321046.1:c.-295T>C (PMS1)	NP_001307975.1:n.-295T>C
NM_001321047.1:c.-472T>C (PMS1)	NP_001307976.1:n.-472T>C
NM_001321048.1:c.-392T>C (PMS1)	NP_001307977.1:n.-392T>C
NM_001321049.1:c.-295T>C (PMS1)	NP_001307978.1:n.-295T>C
NM_001321051.1:c.-295T>C (PMS1)	NP_001307980.1:n.-295T>C
XM_011512199.3:c.-58A>G (ORMDL1)	XP_011510501.1:n.-58A>G
XM_024452965.1:c.-266T>C (PMS1)	XP_024308733.1:n.-266T>C
NM_016467.5:c.-168A>G (ORMDL1) MANE Select	NP_057551.1:n.-168A>G
NM_001128150.2:c.-58A>G (ORMDL1)	NP_001121622.1:n.-58A>G
NM_001371384.1:c.-58A>G (ORMDL1)	NP_001358313.1:n.-58A>G
NM_001371385.1:c.-58A>G (ORMDL1)	NP_001358314.1:n.-58A>G
NM_001371386.1:c.-168A>G (ORMDL1)	NP_001358315.1:n.-168A>G
NM_001371387.1:c.-58A>G (ORMDL1)	NP_001358316.1:n.-58A>G
NR_163942.1:n.21A>G (ORMDL1)