Canonical Allele Identifier: CA2753599196

Gene: PMS1 ORMDL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784356G>C , CM000664.2:g.189784356G>C	GRCh38
NC_000002.11:g.190649082G>C , CM000664.1:g.190649082G>C	GRCh37
NC_000002.10:g.190357327G>C	NCBI36
NG_008648.1:g.5272G>C , LRG_221:g.5272G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639501.1:c.-258G>C (PMS1)	ENSP00000491236.1:n.-258G>C
ENST00000392349.8:c.-205C>G (ORMDL1)	ENSP00000376160.4:n.-205C>G
ENST00000392350.7:c.-95C>G (ORMDL1)	ENSP00000376161.3:n.-95C>G
ENST00000418224.7:c.-258G>C (PMS1)	ENSP00000404492.4:n.-258G>C
ENST00000432292.7:c.-500G>C (PMS1)	ENSP00000398378.3:n.-500G>C
ENST00000618056.4:c.-258G>C (PMS1)	ENSP00000480632.1:n.-258G>C
ENST00000624204.3:c.-683G>C (PMS1)	ENSP00000485312.1:n.-683G>C
NM_000534.4:c.-258G>C , LRG_221t1:c.-258G>C (PMS1)	NP_000525.1:n.-258G>C
NM_001128143.1:c.-258G>C (PMS1)	NP_001121615.1:n.-258G>C
NM_001128144.1:c.-258G>C (PMS1)	NP_001121616.1:n.-258G>C
NM_001128150.1:c.-95C>G (ORMDL1)	NP_001121622.1:n.-95C>G
NM_001289408.1:c.-683G>C (PMS1)	NP_001276337.1:n.-683G>C
NM_001289409.1:c.-500G>C (PMS1)	NP_001276338.1:n.-500G>C
NM_016467.4:c.-205C>G (ORMDL1)	NP_057551.1:n.-205C>G
NR_110332.1:n.272G>C (PMS1)
NM_001321044.1:c.-258G>C (PMS1)	NP_001307973.1:n.-258G>C
NM_001321045.1:c.-384G>C (PMS1)	NP_001307974.1:n.-384G>C
NM_001321046.1:c.-258G>C (PMS1)	NP_001307975.1:n.-258G>C
NM_001321047.1:c.-435G>C (PMS1)	NP_001307976.1:n.-435G>C
NM_001321048.1:c.-355G>C (PMS1)	NP_001307977.1:n.-355G>C
NM_001321049.1:c.-258G>C (PMS1)	NP_001307978.1:n.-258G>C
NM_001321051.1:c.-258G>C (PMS1)	NP_001307980.1:n.-258G>C
XM_011512199.3:c.-95C>G (ORMDL1)	XP_011510501.1:n.-95C>G
XM_024452965.1:c.-229G>C (PMS1)	XP_024308733.1:n.-229G>C