Canonical Allele Identifier: CA161510

Gene: PMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189843986G>A , CM000664.2:g.189843986G>A	GRCh38
NC_000002.11:g.190708712G>A , CM000664.1:g.190708712G>A	GRCh37
NC_000002.10:g.190416957G>A	NCBI36
NG_008648.1:g.64902G>A , LRG_221:g.64902G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441310.7:c.605G>A MANE Select	ENSP00000406490.3:p.Arg202Lys
ENST00000639501.1:c.583-8669G>A	ENSP00000491236.1:n.583-8669G>A
ENST00000342075.8:c.*175G>A	ENSP00000343888.4:n.*175G>A
ENST00000409593.5:c.55-8669G>A	ENSP00000387169.1:n.55-8669G>A
ENST00000409823.7:c.583-8669G>A	ENSP00000387125.3:n.583-8669G>A
ENST00000418224.7:c.583-8669G>A	ENSP00000404492.4:n.583-8669G>A
ENST00000421722.5:n.669-8669G>A
ENST00000424059.1:n.583-8669G>A
ENST00000424307.5:c.422G>A	ENSP00000389938.1:p.Arg141Lys
ENST00000432292.7:c.77G>A	ENSP00000398378.3:p.Arg26Lys
ENST00000441310.6:c.605G>A	ENSP00000406490.2:p.Arg202Lys
ENST00000447232.6:c.605G>A	ENSP00000401064.2:p.Arg202Lys
ENST00000447734.5:c.*175G>A	ENSP00000411151.1:n.*175G>A
ENST00000450931.5:c.583-8669G>A	ENSP00000406225.1:n.583-8669G>A
ENST00000618056.4:c.582+25806G>A	ENSP00000480632.1:n.582+25806G>A
ENST00000624204.3:c.77G>A	ENSP00000485312.1:p.Arg26Lys
NM_000534.4:c.605G>A , LRG_221t1:c.605G>A	NP_000525.1:p.Arg202Lys
NM_001128143.1:c.583-8669G>A	NP_001121615.1:n.583-8669G>A
NM_001128144.1:c.605G>A	NP_001121616.1:p.Arg202Lys
NM_001289408.1:c.77G>A	NP_001276337.1:p.Arg26Lys
NM_001289409.1:c.77G>A	NP_001276338.1:p.Arg26Lys
NR_110332.1:n.1209-8669G>A
XM_005246647.2:c.605G>A	XP_005246704.1:p.Arg202Lys
XM_005246649.2:c.605G>A	XP_005246706.1:p.Arg202Lys
XM_006712596.1:c.50G>A	XP_006712659.1:p.Arg17Lys
XM_011511353.1:c.605G>A	XP_011509655.1:p.Arg202Lys
XM_011511354.1:c.605G>A	XP_011509656.1:p.Arg202Lys
XM_011511355.1:c.422G>A	XP_011509657.1:p.Arg141Lys
XM_011511356.1:c.77G>A	XP_011509658.1:p.Arg26Lys
XM_011511357.1:c.583-8669G>A	XP_011509659.1:n.583-8669G>A
XR_922951.1:n.769G>A
NM_001321044.1:c.583-8669G>A	NP_001307973.1:n.583-8669G>A
NM_001321045.1:c.605G>A	NP_001307974.1:p.Arg202Lys
NM_001321046.1:c.422G>A	NP_001307975.1:p.Arg141Lys
NM_001321047.1:c.605G>A	NP_001307976.1:p.Arg202Lys
NM_001321048.1:c.605G>A	NP_001307977.1:p.Arg202Lys
XM_011511356.3:c.77G>A	XP_011509658.1:p.Arg26Lys
XM_017004344.1:c.583-8669G>A	XP_016859833.1:n.583-8669G>A
XM_017004345.1:c.422G>A	XP_016859834.1:p.Arg141Lys
XM_017004346.2:c.422G>A	XP_016859835.1:p.Arg141Lys
XM_017004347.1:c.400-8669G>A	XP_016859836.1:n.400-8669G>A
XM_017004348.1:c.605G>A	XP_016859837.1:p.Arg202Lys
XM_017004349.2:c.55-8669G>A	XP_016859838.1:n.55-8669G>A
XM_017004350.1:c.422G>A	XP_016859839.1:p.Arg141Lys
XM_024452964.1:c.605G>A	XP_024308732.1:p.Arg202Lys
XM_024452965.1:c.605G>A	XP_024308733.1:p.Arg202Lys
XM_024452966.1:c.583-8669G>A	XP_024308734.1:n.583-8669G>A
XM_024452967.1:c.583-8669G>A	XP_024308735.1:n.583-8669G>A
XM_024452968.1:c.77G>A	XP_024308736.1:p.Arg26Lys
XM_024452969.1:c.77G>A	XP_024308737.1:p.Arg26Lys
XR_001738779.1:n.860G>A
XR_002959307.1:n.865G>A
XR_922951.2:n.763G>A
NM_000534.5:c.605G>A MANE Select	NP_000525.1:p.Arg202Lys
NM_001128143.2:c.583-8669G>A	NP_001121615.1:n.583-8669G>A
NM_001128144.2:c.605G>A	NP_001121616.1:p.Arg202Lys
NM_001321044.2:c.583-8669G>A	NP_001307973.1:n.583-8669G>A
NM_001321045.2:c.605G>A	NP_001307974.1:p.Arg202Lys
NM_001321046.2:c.422G>A	NP_001307975.1:p.Arg141Lys
NM_001321047.2:c.605G>A	NP_001307976.1:p.Arg202Lys
NM_001321048.2:c.605G>A	NP_001307977.1:p.Arg202Lys
NR_110332.2:n.844-8669G>A
NM_001289408.2:c.77G>A	NP_001276337.1:p.Arg26Lys
NM_001289409.2:c.77G>A	NP_001276338.1:p.Arg26Lys