Canonical Allele Identifier: CA1315746055

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189784336G= , CM000664.2:g.189784336G= GRCh38
NC_000002.11:g.190649062G= , CM000664.1:g.190649062G= GRCh37
NC_000002.10:g.190357307G= NCBI36
NG_008648.1:g.5252G= , LRG_221:g.5252G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000392349.9:c.-185C= (ORMDL1) MANE Select ENSP00000376160.4:n.-185C=
ENST00000639501.1:c.-278G= (PMS1) ENSP00000491236.1:n.-278G=
ENST00000392349.8:c.-185C= (ORMDL1) ENSP00000376160.4:n.-185C=
ENST00000392350.7:c.-75C= (ORMDL1) ENSP00000376161.3:n.-75C=
ENST00000418224.7:c.-278G= (PMS1) ENSP00000404492.4:n.-278G=
ENST00000432292.7:c.-520G= (PMS1) ENSP00000398378.3:n.-520G=
ENST00000618056.4:c.-278G= (PMS1) ENSP00000480632.1:n.-278G=
ENST00000624204.3:c.-703G= (PMS1) ENSP00000485312.1:n.-703G=
NM_000534.4:c.-278G= , LRG_221t1:c.-278G= (PMS1) NP_000525.1:n.-278G=
NM_001128143.1:c.-278G= (PMS1) NP_001121615.1:n.-278G=
NM_001128144.1:c.-278G= (PMS1) NP_001121616.1:n.-278G=
NM_001128150.1:c.-75C= (ORMDL1) NP_001121622.1:n.-75C=
NM_001289408.1:c.-703G= (PMS1) NP_001276337.1:n.-703G=
NM_001289409.1:c.-520G= (PMS1) NP_001276338.1:n.-520G=
NM_016467.4:c.-185C= (ORMDL1) NP_057551.1:n.-185C=
NR_110332.1:n.252G= (PMS1)
NM_001321044.1:c.-278G= (PMS1) NP_001307973.1:n.-278G=
NM_001321045.1:c.-404G= (PMS1) NP_001307974.1:n.-404G=
NM_001321046.1:c.-278G= (PMS1) NP_001307975.1:n.-278G=
NM_001321047.1:c.-455G= (PMS1) NP_001307976.1:n.-455G=
NM_001321048.1:c.-375G= (PMS1) NP_001307977.1:n.-375G=
NM_001321049.1:c.-278G= (PMS1) NP_001307978.1:n.-278G=
NM_001321051.1:c.-278G= (PMS1) NP_001307980.1:n.-278G=
XM_011512199.3:c.-75C= (ORMDL1) XP_011510501.1:n.-75C=
XM_024452965.1:c.-249G= (PMS1) XP_024308733.1:n.-249G=
NM_016467.5:c.-185C= (ORMDL1) MANE Select NP_057551.1:n.-185C=
NM_001128150.2:c.-75C= (ORMDL1) NP_001121622.1:n.-75C=
NM_001371384.1:c.-75C= (ORMDL1) NP_001358313.1:n.-75C=
NM_001371385.1:c.-75C= (ORMDL1) NP_001358314.1:n.-75C=
NM_001371386.1:c.-185C= (ORMDL1) NP_001358315.1:n.-185C=
NM_001371387.1:c.-75C= (ORMDL1) NP_001358316.1:n.-75C=
NR_163942.1:n.4C= (ORMDL1)