Canonical Allele Identifier: CA2662343407

Gene: PMS1

Linked Data

• gnomAD v4: 2-189784424-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784424C>T , CM000664.2:g.189784424C>T	GRCh38
NC_000002.11:g.190649150C>T , CM000664.1:g.190649150C>T	GRCh37
NC_000002.10:g.190357395C>T	NCBI36
NG_008648.1:g.5340C>T , LRG_221:g.5340C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000639501.1:c.-190C>T	ENSP00000491236.1:n.-190C>T
ENST00000418224.7:c.-190C>T	ENSP00000404492.4:n.-190C>T
ENST00000432292.7:c.-432C>T	ENSP00000398378.3:n.-432C>T
ENST00000441310.6:c.-190C>T	ENSP00000406490.2:n.-190C>T
ENST00000618056.4:c.-190C>T	ENSP00000480632.1:n.-190C>T
ENST00000624204.3:c.-615C>T	ENSP00000485312.1:n.-615C>T
NM_000534.4:c.-190C>T , LRG_221t1:c.-190C>T	NP_000525.1:n.-190C>T
NM_001128143.1:c.-190C>T	NP_001121615.1:n.-190C>T
NM_001128144.1:c.-190C>T	NP_001121616.1:n.-190C>T
NM_001289408.1:c.-615C>T	NP_001276337.1:n.-615C>T
NM_001289409.1:c.-432C>T	NP_001276338.1:n.-432C>T
NR_110332.1:n.340C>T
NM_001321044.1:c.-190C>T	NP_001307973.1:n.-190C>T
NM_001321045.1:c.-316C>T	NP_001307974.1:n.-316C>T
NM_001321046.1:c.-190C>T	NP_001307975.1:n.-190C>T
NM_001321047.1:c.-367C>T	NP_001307976.1:n.-367C>T
NM_001321048.1:c.-287C>T	NP_001307977.1:n.-287C>T
NM_001321049.1:c.-190C>T	NP_001307978.1:n.-190C>T
NM_001321051.1:c.-190C>T	NP_001307980.1:n.-190C>T
XM_024452965.1:c.-161C>T	XP_024308733.1:n.-161C>T