Canonical Allele Identifier: CA2662343536

Gene: PMS1

Linked Data

• gnomAD v4: 2-189784491-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784491G>A , CM000664.2:g.189784491G>A	GRCh38
NC_000002.11:g.190649217G>A , CM000664.1:g.190649217G>A	GRCh37
NC_000002.10:g.190357462G>A	NCBI36
NG_008648.1:g.5407G>A , LRG_221:g.5407G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000441310.7:c.-123G>A MANE Select	ENSP00000406490.3:n.-123G>A
ENST00000639501.1:c.-123G>A	ENSP00000491236.1:n.-123G>A
ENST00000342075.8:c.-123G>A	ENSP00000343888.4:n.-123G>A
ENST00000409985.5:c.-123G>A	ENSP00000386623.1:n.-123G>A
ENST00000418224.7:c.-123G>A	ENSP00000404492.4:n.-123G>A
ENST00000432292.7:c.-365G>A	ENSP00000398378.3:n.-365G>A
ENST00000441310.6:c.-123G>A	ENSP00000406490.2:n.-123G>A
ENST00000446877.5:c.-426G>A	ENSP00000413837.1:n.-426G>A
ENST00000618056.4:c.-123G>A	ENSP00000480632.1:n.-123G>A
ENST00000624204.3:c.-548G>A	ENSP00000485312.1:n.-548G>A
NM_000534.4:c.-123G>A , LRG_221t1:c.-123G>A	NP_000525.1:n.-123G>A
NM_001128143.1:c.-123G>A	NP_001121615.1:n.-123G>A
NM_001128144.1:c.-123G>A	NP_001121616.1:n.-123G>A
NM_001289408.1:c.-548G>A	NP_001276337.1:n.-548G>A
NM_001289409.1:c.-365G>A	NP_001276338.1:n.-365G>A
NR_110332.1:n.407G>A
XM_005246647.2:c.-249G>A	XP_005246704.1:n.-249G>A
XM_005246649.2:c.-123G>A	XP_005246706.1:n.-123G>A
XM_011511354.1:c.-220G>A	XP_011509656.1:n.-220G>A
XM_011511355.1:c.-123G>A	XP_011509657.1:n.-123G>A
XM_011511357.1:c.-123G>A	XP_011509659.1:n.-123G>A
XR_922951.1:n.42G>A
NM_001321044.1:c.-123G>A	NP_001307973.1:n.-123G>A
NM_001321045.1:c.-249G>A	NP_001307974.1:n.-249G>A
NM_001321046.1:c.-123G>A	NP_001307975.1:n.-123G>A
NM_001321047.1:c.-300G>A	NP_001307976.1:n.-300G>A
NM_001321048.1:c.-220G>A	NP_001307977.1:n.-220G>A
NM_001321049.1:c.-123G>A	NP_001307978.1:n.-123G>A
NM_001321051.1:c.-123G>A	NP_001307980.1:n.-123G>A
XM_017004344.1:c.-249G>A	XP_016859833.1:n.-249G>A
XM_017004345.1:c.-144G>A	XP_016859834.1:n.-144G>A
XM_017004346.2:c.-94G>A	XP_016859835.1:n.-94G>A
XM_017004347.1:c.-123G>A	XP_016859836.1:n.-123G>A
XM_017004350.1:c.-123G>A	XP_016859839.1:n.-123G>A
XM_024452964.1:c.-144G>A	XP_024308732.1:n.-144G>A
XM_024452965.1:c.-94G>A	XP_024308733.1:n.-94G>A
XM_024452966.1:c.-144G>A	XP_024308734.1:n.-144G>A
XM_024452967.1:c.-94G>A	XP_024308735.1:n.-94G>A
XR_001738779.1:n.7G>A
XR_922951.2:n.36G>A
NM_000534.5:c.-123G>A MANE Select	NP_000525.1:n.-123G>A
NM_001128143.2:c.-123G>A	NP_001121615.1:n.-123G>A
NM_001128144.2:c.-123G>A	NP_001121616.1:n.-123G>A
NM_001321044.2:c.-123G>A	NP_001307973.1:n.-123G>A
NM_001321045.2:c.-249G>A	NP_001307974.1:n.-249G>A
NM_001321046.2:c.-123G>A	NP_001307975.1:n.-123G>A
NM_001321047.2:c.-300G>A	NP_001307976.1:n.-300G>A
NM_001321048.2:c.-220G>A	NP_001307977.1:n.-220G>A
NM_001321049.2:c.-123G>A	NP_001307978.1:n.-123G>A
NR_110332.2:n.42G>A
NM_001289408.2:c.-548G>A	NP_001276337.1:n.-548G>A
NM_001289409.2:c.-365G>A	NP_001276338.1:n.-365G>A
NM_001321051.2:c.-123G>A	NP_001307980.1:n.-123G>A