Canonical Allele Identifier: CA62620178

Gene: ORMDL1 PMS1

Linked Data

• dbSNP Id: rs5742930
• gnomAD v2: 2-190649060-A-C
• gnomAD v3: 2-189784334-A-C
• gnomAD v4: 2-189784334-A-C
• MyVariant Identifiers: chr2:g.190649060A>C (hg19) ; chr2:g.189784334A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784334A>C , CM000664.2:g.189784334A>C	GRCh38
NC_000002.11:g.190649060A>C , CM000664.1:g.190649060A>C	GRCh37
NC_000002.10:g.190357305A>C	NCBI36
NG_008648.1:g.5250A>C , LRG_221:g.5250A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392349.9:c.-183T>G (ORMDL1) MANE Select	ENSP00000376160.4:n.-183T>G
ENST00000639501.1:c.-280A>C (PMS1)	ENSP00000491236.1:n.-280A>C
ENST00000392349.8:c.-183T>G (ORMDL1)	ENSP00000376160.4:n.-183T>G
ENST00000392350.7:c.-73T>G (ORMDL1)	ENSP00000376161.3:n.-73T>G
ENST00000418224.7:c.-280A>C (PMS1)	ENSP00000404492.4:n.-280A>C
ENST00000432292.7:c.-522A>C (PMS1)	ENSP00000398378.3:n.-522A>C
ENST00000618056.4:c.-280A>C (PMS1)	ENSP00000480632.1:n.-280A>C
ENST00000624204.3:c.-705A>C (PMS1)	ENSP00000485312.1:n.-705A>C
NM_000534.4:c.-280A>C , LRG_221t1:c.-280A>C (PMS1)	NP_000525.1:n.-280A>C
NM_001128143.1:c.-280A>C (PMS1)	NP_001121615.1:n.-280A>C
NM_001128144.1:c.-280A>C (PMS1)	NP_001121616.1:n.-280A>C
NM_001128150.1:c.-73T>G (ORMDL1)	NP_001121622.1:n.-73T>G
NM_001289408.1:c.-705A>C (PMS1)	NP_001276337.1:n.-705A>C
NM_001289409.1:c.-522A>C (PMS1)	NP_001276338.1:n.-522A>C
NM_016467.4:c.-183T>G (ORMDL1)	NP_057551.1:n.-183T>G
NR_110332.1:n.250A>C (PMS1)
NM_001321044.1:c.-280A>C (PMS1)	NP_001307973.1:n.-280A>C
NM_001321045.1:c.-406A>C (PMS1)	NP_001307974.1:n.-406A>C
NM_001321046.1:c.-280A>C (PMS1)	NP_001307975.1:n.-280A>C
NM_001321047.1:c.-457A>C (PMS1)	NP_001307976.1:n.-457A>C
NM_001321048.1:c.-377A>C (PMS1)	NP_001307977.1:n.-377A>C
NM_001321049.1:c.-280A>C (PMS1)	NP_001307978.1:n.-280A>C
NM_001321051.1:c.-280A>C (PMS1)	NP_001307980.1:n.-280A>C
XM_011512199.3:c.-73T>G (ORMDL1)	XP_011510501.1:n.-73T>G
XM_024452965.1:c.-251A>C (PMS1)	XP_024308733.1:n.-251A>C
NM_016467.5:c.-183T>G (ORMDL1) MANE Select	NP_057551.1:n.-183T>G
NM_001128150.2:c.-73T>G (ORMDL1)	NP_001121622.1:n.-73T>G
NM_001371384.1:c.-73T>G (ORMDL1)	NP_001358313.1:n.-73T>G
NM_001371385.1:c.-73T>G (ORMDL1)	NP_001358314.1:n.-73T>G
NM_001371386.1:c.-183T>G (ORMDL1)	NP_001358315.1:n.-183T>G
NM_001371387.1:c.-73T>G (ORMDL1)	NP_001358316.1:n.-73T>G
NR_163942.1:n.6T>G (ORMDL1)