Canonical Allele Identifier: CA1040452312

Gene: PMS1

Linked Data

• dbSNP Id: rs2048066578
• gnomAD v3: 2-189784500-G-T
• gnomAD v4: 2-189784500-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784500G>T , CM000664.2:g.189784500G>T	GRCh38
NC_000002.11:g.190649226G>T , CM000664.1:g.190649226G>T	GRCh37
NC_000002.10:g.190357471G>T	NCBI36
NG_008648.1:g.5416G>T , LRG_221:g.5416G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000441310.7:c.-114G>T MANE Select	ENSP00000406490.3:n.-114G>T
ENST00000639501.1:c.-114G>T	ENSP00000491236.1:n.-114G>T
ENST00000342075.8:c.-114G>T	ENSP00000343888.4:n.-114G>T
ENST00000409985.5:c.-114G>T	ENSP00000386623.1:n.-114G>T
ENST00000418224.7:c.-114G>T	ENSP00000404492.4:n.-114G>T
ENST00000432292.7:c.-356G>T	ENSP00000398378.3:n.-356G>T
ENST00000441310.6:c.-114G>T	ENSP00000406490.2:n.-114G>T
ENST00000446877.5:c.-417G>T	ENSP00000413837.1:n.-417G>T
ENST00000618056.4:c.-114G>T	ENSP00000480632.1:n.-114G>T
ENST00000624204.3:c.-539G>T	ENSP00000485312.1:n.-539G>T
NM_000534.4:c.-114G>T , LRG_221t1:c.-114G>T	NP_000525.1:n.-114G>T
NM_001128143.1:c.-114G>T	NP_001121615.1:n.-114G>T
NM_001128144.1:c.-114G>T	NP_001121616.1:n.-114G>T
NM_001289408.1:c.-539G>T	NP_001276337.1:n.-539G>T
NM_001289409.1:c.-356G>T	NP_001276338.1:n.-356G>T
NR_110332.1:n.416G>T
XM_005246647.2:c.-240G>T	XP_005246704.1:n.-240G>T
XM_005246649.2:c.-114G>T	XP_005246706.1:n.-114G>T
XM_011511354.1:c.-211G>T	XP_011509656.1:n.-211G>T
XM_011511355.1:c.-114G>T	XP_011509657.1:n.-114G>T
XM_011511357.1:c.-114G>T	XP_011509659.1:n.-114G>T
XR_922951.1:n.51G>T
NM_001321044.1:c.-114G>T	NP_001307973.1:n.-114G>T
NM_001321045.1:c.-240G>T	NP_001307974.1:n.-240G>T
NM_001321046.1:c.-114G>T	NP_001307975.1:n.-114G>T
NM_001321047.1:c.-291G>T	NP_001307976.1:n.-291G>T
NM_001321048.1:c.-211G>T	NP_001307977.1:n.-211G>T
NM_001321049.1:c.-114G>T	NP_001307978.1:n.-114G>T
NM_001321051.1:c.-114G>T	NP_001307980.1:n.-114G>T
XM_011511356.3:c.-1437G>T	XP_011509658.1:n.-1437G>T
XM_017004344.1:c.-240G>T	XP_016859833.1:n.-240G>T
XM_017004345.1:c.-135G>T	XP_016859834.1:n.-135G>T
XM_017004346.2:c.-85G>T	XP_016859835.1:n.-85G>T
XM_017004347.1:c.-114G>T	XP_016859836.1:n.-114G>T
XM_017004350.1:c.-114G>T	XP_016859839.1:n.-114G>T
XM_024452964.1:c.-135G>T	XP_024308732.1:n.-135G>T
XM_024452965.1:c.-85G>T	XP_024308733.1:n.-85G>T
XM_024452966.1:c.-135G>T	XP_024308734.1:n.-135G>T
XM_024452967.1:c.-85G>T	XP_024308735.1:n.-85G>T
XM_024452968.1:c.-510G>T	XP_024308736.1:n.-510G>T
XM_024452969.1:c.-539G>T	XP_024308737.1:n.-539G>T
XR_001738779.1:n.16G>T
XR_922951.2:n.45G>T
NM_000534.5:c.-114G>T MANE Select	NP_000525.1:n.-114G>T
NM_001128143.2:c.-114G>T	NP_001121615.1:n.-114G>T
NM_001128144.2:c.-114G>T	NP_001121616.1:n.-114G>T
NM_001321044.2:c.-114G>T	NP_001307973.1:n.-114G>T
NM_001321045.2:c.-240G>T	NP_001307974.1:n.-240G>T
NM_001321046.2:c.-114G>T	NP_001307975.1:n.-114G>T
NM_001321047.2:c.-291G>T	NP_001307976.1:n.-291G>T
NM_001321048.2:c.-211G>T	NP_001307977.1:n.-211G>T
NM_001321049.2:c.-114G>T	NP_001307978.1:n.-114G>T
NR_110332.2:n.51G>T
NM_001289408.2:c.-539G>T	NP_001276337.1:n.-539G>T
NM_001289409.2:c.-356G>T	NP_001276338.1:n.-356G>T
NM_001321051.2:c.-114G>T	NP_001307980.1:n.-114G>T