Canonical Allele Identifier: CA2662343547

Gene: PMS1

Linked Data

• gnomAD v4: 2-189784504-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784504G>T , CM000664.2:g.189784504G>T	GRCh38
NC_000002.11:g.190649230G>T , CM000664.1:g.190649230G>T	GRCh37
NC_000002.10:g.190357475G>T	NCBI36
NG_008648.1:g.5420G>T , LRG_221:g.5420G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000441310.7:c.-110G>T MANE Select	ENSP00000406490.3:n.-110G>T
ENST00000639501.1:c.-110G>T	ENSP00000491236.1:n.-110G>T
ENST00000342075.8:c.-110G>T	ENSP00000343888.4:n.-110G>T
ENST00000409823.7:c.-110G>T	ENSP00000387125.3:n.-110G>T
ENST00000409985.5:c.-110G>T	ENSP00000386623.1:n.-110G>T
ENST00000418224.7:c.-110G>T	ENSP00000404492.4:n.-110G>T
ENST00000432292.7:c.-352G>T	ENSP00000398378.3:n.-352G>T
ENST00000441310.6:c.-110G>T	ENSP00000406490.2:n.-110G>T
ENST00000446877.5:c.-413G>T	ENSP00000413837.1:n.-413G>T
ENST00000618056.4:c.-110G>T	ENSP00000480632.1:n.-110G>T
ENST00000624204.3:c.-535G>T	ENSP00000485312.1:n.-535G>T
NM_000534.4:c.-110G>T , LRG_221t1:c.-110G>T	NP_000525.1:n.-110G>T
NM_001128143.1:c.-110G>T	NP_001121615.1:n.-110G>T
NM_001128144.1:c.-110G>T	NP_001121616.1:n.-110G>T
NM_001289408.1:c.-535G>T	NP_001276337.1:n.-535G>T
NM_001289409.1:c.-352G>T	NP_001276338.1:n.-352G>T
NR_110332.1:n.420G>T
XM_005246647.2:c.-236G>T	XP_005246704.1:n.-236G>T
XM_005246649.2:c.-110G>T	XP_005246706.1:n.-110G>T
XM_011511354.1:c.-207G>T	XP_011509656.1:n.-207G>T
XM_011511355.1:c.-110G>T	XP_011509657.1:n.-110G>T
XM_011511357.1:c.-110G>T	XP_011509659.1:n.-110G>T
XR_922951.1:n.55G>T
NM_001321044.1:c.-110G>T	NP_001307973.1:n.-110G>T
NM_001321045.1:c.-236G>T	NP_001307974.1:n.-236G>T
NM_001321046.1:c.-110G>T	NP_001307975.1:n.-110G>T
NM_001321047.1:c.-287G>T	NP_001307976.1:n.-287G>T
NM_001321048.1:c.-207G>T	NP_001307977.1:n.-207G>T
NM_001321049.1:c.-110G>T	NP_001307978.1:n.-110G>T
NM_001321051.1:c.-110G>T	NP_001307980.1:n.-110G>T
XM_011511356.3:c.-1433G>T	XP_011509658.1:n.-1433G>T
XM_017004344.1:c.-236G>T	XP_016859833.1:n.-236G>T
XM_017004345.1:c.-131G>T	XP_016859834.1:n.-131G>T
XM_017004346.2:c.-81G>T	XP_016859835.1:n.-81G>T
XM_017004347.1:c.-110G>T	XP_016859836.1:n.-110G>T
XM_017004350.1:c.-110G>T	XP_016859839.1:n.-110G>T
XM_024452964.1:c.-131G>T	XP_024308732.1:n.-131G>T
XM_024452965.1:c.-81G>T	XP_024308733.1:n.-81G>T
XM_024452966.1:c.-131G>T	XP_024308734.1:n.-131G>T
XM_024452967.1:c.-81G>T	XP_024308735.1:n.-81G>T
XM_024452968.1:c.-506G>T	XP_024308736.1:n.-506G>T
XM_024452969.1:c.-535G>T	XP_024308737.1:n.-535G>T
XR_001738779.1:n.20G>T
XR_002959307.1:n.4G>T
XR_922951.2:n.49G>T
NM_000534.5:c.-110G>T MANE Select	NP_000525.1:n.-110G>T
NM_001128143.2:c.-110G>T	NP_001121615.1:n.-110G>T
NM_001128144.2:c.-110G>T	NP_001121616.1:n.-110G>T
NM_001321044.2:c.-110G>T	NP_001307973.1:n.-110G>T
NM_001321045.2:c.-236G>T	NP_001307974.1:n.-236G>T
NM_001321046.2:c.-110G>T	NP_001307975.1:n.-110G>T
NM_001321047.2:c.-287G>T	NP_001307976.1:n.-287G>T
NM_001321048.2:c.-207G>T	NP_001307977.1:n.-207G>T
NM_001321049.2:c.-110G>T	NP_001307978.1:n.-110G>T
NR_110332.2:n.55G>T
NM_001289408.2:c.-535G>T	NP_001276337.1:n.-535G>T
NM_001289409.2:c.-352G>T	NP_001276338.1:n.-352G>T
NM_001321051.2:c.-110G>T	NP_001307980.1:n.-110G>T