Canonical Allele Identifier: CA762318106

Gene: ORMDL1 PMS1

Linked Data

• dbSNP Id: rs966043348
• gnomAD v3: 2-189784331-T-G
• gnomAD v4: 2-189784331-T-G
• MyVariant Identifiers: chr2:g.190649057T>G (hg19) ; chr2:g.189784331T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784331T>G , CM000664.2:g.189784331T>G	GRCh38
NC_000002.11:g.190649057T>G , CM000664.1:g.190649057T>G	GRCh37
NC_000002.10:g.190357302T>G	NCBI36
NG_008648.1:g.5247T>G , LRG_221:g.5247T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392349.9:c.-180A>C (ORMDL1) MANE Select	ENSP00000376160.4:n.-180A>C
ENST00000639501.1:c.-283T>G (PMS1)	ENSP00000491236.1:n.-283T>G
ENST00000392349.8:c.-180A>C (ORMDL1)	ENSP00000376160.4:n.-180A>C
ENST00000392350.7:c.-70A>C (ORMDL1)	ENSP00000376161.3:n.-70A>C
ENST00000418224.7:c.-283T>G (PMS1)	ENSP00000404492.4:n.-283T>G
ENST00000432292.7:c.-525T>G (PMS1)	ENSP00000398378.3:n.-525T>G
ENST00000618056.4:c.-283T>G (PMS1)	ENSP00000480632.1:n.-283T>G
ENST00000624204.3:c.-708T>G (PMS1)	ENSP00000485312.1:n.-708T>G
NM_000534.4:c.-283T>G , LRG_221t1:c.-283T>G (PMS1)	NP_000525.1:n.-283T>G
NM_001128143.1:c.-283T>G (PMS1)	NP_001121615.1:n.-283T>G
NM_001128144.1:c.-283T>G (PMS1)	NP_001121616.1:n.-283T>G
NM_001128150.1:c.-70A>C (ORMDL1)	NP_001121622.1:n.-70A>C
NM_001289408.1:c.-708T>G (PMS1)	NP_001276337.1:n.-708T>G
NM_001289409.1:c.-525T>G (PMS1)	NP_001276338.1:n.-525T>G
NM_016467.4:c.-180A>C (ORMDL1)	NP_057551.1:n.-180A>C
NR_110332.1:n.247T>G (PMS1)
NM_001321044.1:c.-283T>G (PMS1)	NP_001307973.1:n.-283T>G
NM_001321045.1:c.-409T>G (PMS1)	NP_001307974.1:n.-409T>G
NM_001321046.1:c.-283T>G (PMS1)	NP_001307975.1:n.-283T>G
NM_001321047.1:c.-460T>G (PMS1)	NP_001307976.1:n.-460T>G
NM_001321048.1:c.-380T>G (PMS1)	NP_001307977.1:n.-380T>G
NM_001321049.1:c.-283T>G (PMS1)	NP_001307978.1:n.-283T>G
NM_001321051.1:c.-283T>G (PMS1)	NP_001307980.1:n.-283T>G
XM_011512199.3:c.-70A>C (ORMDL1)	XP_011510501.1:n.-70A>C
XM_024452965.1:c.-254T>G (PMS1)	XP_024308733.1:n.-254T>G
NM_016467.5:c.-180A>C (ORMDL1) MANE Select	NP_057551.1:n.-180A>C
NM_001128150.2:c.-70A>C (ORMDL1)	NP_001121622.1:n.-70A>C
NM_001371384.1:c.-70A>C (ORMDL1)	NP_001358313.1:n.-70A>C
NM_001371385.1:c.-70A>C (ORMDL1)	NP_001358314.1:n.-70A>C
NM_001371386.1:c.-180A>C (ORMDL1)	NP_001358315.1:n.-180A>C
NM_001371387.1:c.-70A>C (ORMDL1)	NP_001358316.1:n.-70A>C
NR_163942.1:n.9A>C (ORMDL1)