Canonical Allele Identifier: CA2753599201

Gene: PMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784403C>T , CM000664.2:g.189784403C>T	GRCh38
NC_000002.11:g.190649129C>T , CM000664.1:g.190649129C>T	GRCh37
NC_000002.10:g.190357374C>T	NCBI36
NG_008648.1:g.5319C>T , LRG_221:g.5319C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639501.1:c.-211C>T	ENSP00000491236.1:n.-211C>T
ENST00000418224.7:c.-211C>T	ENSP00000404492.4:n.-211C>T
ENST00000432292.7:c.-453C>T	ENSP00000398378.3:n.-453C>T
ENST00000441310.6:c.-211C>T	ENSP00000406490.2:n.-211C>T
ENST00000618056.4:c.-211C>T	ENSP00000480632.1:n.-211C>T
ENST00000624204.3:c.-636C>T	ENSP00000485312.1:n.-636C>T
NM_000534.4:c.-211C>T , LRG_221t1:c.-211C>T	NP_000525.1:n.-211C>T
NM_001128143.1:c.-211C>T	NP_001121615.1:n.-211C>T
NM_001128144.1:c.-211C>T	NP_001121616.1:n.-211C>T
NM_001289408.1:c.-636C>T	NP_001276337.1:n.-636C>T
NM_001289409.1:c.-453C>T	NP_001276338.1:n.-453C>T
NR_110332.1:n.319C>T
NM_001321044.1:c.-211C>T	NP_001307973.1:n.-211C>T
NM_001321045.1:c.-337C>T	NP_001307974.1:n.-337C>T
NM_001321046.1:c.-211C>T	NP_001307975.1:n.-211C>T
NM_001321047.1:c.-388C>T	NP_001307976.1:n.-388C>T
NM_001321048.1:c.-308C>T	NP_001307977.1:n.-308C>T
NM_001321049.1:c.-211C>T	NP_001307978.1:n.-211C>T
NM_001321051.1:c.-211C>T	NP_001307980.1:n.-211C>T
XM_024452965.1:c.-182C>T	XP_024308733.1:n.-182C>T