Canonical Allele Identifier: CA1315746028

Gene: ORMDL1 PMS1

Linked Data

• dbSNP Id: rs1048895428

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784304G>A , CM000664.2:g.189784304G>A	GRCh38
NC_000002.11:g.190649030G>A , CM000664.1:g.190649030G>A	GRCh37
NC_000002.10:g.190357275G>A	NCBI36
NG_008648.1:g.5220G>A , LRG_221:g.5220G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392349.9:c.-153C>T (ORMDL1) MANE Select	ENSP00000376160.4:n.-153C>T
ENST00000639501.1:c.-310G>A (PMS1)	ENSP00000491236.1:n.-310G>A
ENST00000392349.8:c.-153C>T (ORMDL1)	ENSP00000376160.4:n.-153C>T
ENST00000392350.7:c.-43C>T (ORMDL1)	ENSP00000376161.3:n.-43C>T
ENST00000409519.5:c.-43C>T (ORMDL1)	ENSP00000386253.1:n.-43C>T
ENST00000418224.7:c.-310G>A (PMS1)	ENSP00000404492.4:n.-310G>A
ENST00000432292.7:c.-552G>A (PMS1)	ENSP00000398378.3:n.-552G>A
ENST00000458355.1:c.-564C>T (ORMDL1)	ENSP00000402074.1:n.-564C>T
ENST00000618056.4:c.-310G>A (PMS1)	ENSP00000480632.1:n.-310G>A
ENST00000624204.3:c.-735G>A (PMS1)	ENSP00000485312.1:n.-735G>A
NM_000534.4:c.-310G>A , LRG_221t1:c.-310G>A (PMS1)	NP_000525.1:n.-310G>A
NM_001128143.1:c.-310G>A (PMS1)	NP_001121615.1:n.-310G>A
NM_001128144.1:c.-310G>A (PMS1)	NP_001121616.1:n.-310G>A
NM_001128150.1:c.-43C>T (ORMDL1)	NP_001121622.1:n.-43C>T
NM_001289408.1:c.-735G>A (PMS1)	NP_001276337.1:n.-735G>A
NM_001289409.1:c.-552G>A (PMS1)	NP_001276338.1:n.-552G>A
NM_016467.4:c.-153C>T (ORMDL1)	NP_057551.1:n.-153C>T
NR_110332.1:n.220G>A (PMS1)
NM_001321044.1:c.-310G>A (PMS1)	NP_001307973.1:n.-310G>A
NM_001321045.1:c.-436G>A (PMS1)	NP_001307974.1:n.-436G>A
NM_001321046.1:c.-310G>A (PMS1)	NP_001307975.1:n.-310G>A
NM_001321047.1:c.-487G>A (PMS1)	NP_001307976.1:n.-487G>A
NM_001321048.1:c.-407G>A (PMS1)	NP_001307977.1:n.-407G>A
NM_001321049.1:c.-310G>A (PMS1)	NP_001307978.1:n.-310G>A
NM_001321051.1:c.-310G>A (PMS1)	NP_001307980.1:n.-310G>A
XM_011512199.3:c.-43C>T (ORMDL1)	XP_011510501.1:n.-43C>T
XM_024452965.1:c.-281G>A (PMS1)	XP_024308733.1:n.-281G>A
NM_016467.5:c.-153C>T (ORMDL1) MANE Select	NP_057551.1:n.-153C>T
NM_001128150.2:c.-43C>T (ORMDL1)	NP_001121622.1:n.-43C>T
NM_001371384.1:c.-43C>T (ORMDL1)	NP_001358313.1:n.-43C>T
NM_001371385.1:c.-43C>T (ORMDL1)	NP_001358314.1:n.-43C>T
NM_001371386.1:c.-153C>T (ORMDL1)	NP_001358315.1:n.-153C>T
NM_001371387.1:c.-43C>T (ORMDL1)	NP_001358316.1:n.-43C>T
NR_163942.1:n.36C>T (ORMDL1)