Canonical Allele Identifier: CA2753599205

Gene: PMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784411A>C , CM000664.2:g.189784411A>C	GRCh38
NC_000002.11:g.190649137A>C , CM000664.1:g.190649137A>C	GRCh37
NC_000002.10:g.190357382A>C	NCBI36
NG_008648.1:g.5327A>C , LRG_221:g.5327A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639501.1:c.-203A>C	ENSP00000491236.1:n.-203A>C
ENST00000418224.7:c.-203A>C	ENSP00000404492.4:n.-203A>C
ENST00000432292.7:c.-445A>C	ENSP00000398378.3:n.-445A>C
ENST00000441310.6:c.-203A>C	ENSP00000406490.2:n.-203A>C
ENST00000618056.4:c.-203A>C	ENSP00000480632.1:n.-203A>C
ENST00000624204.3:c.-628A>C	ENSP00000485312.1:n.-628A>C
NM_000534.4:c.-203A>C , LRG_221t1:c.-203A>C	NP_000525.1:n.-203A>C
NM_001128143.1:c.-203A>C	NP_001121615.1:n.-203A>C
NM_001128144.1:c.-203A>C	NP_001121616.1:n.-203A>C
NM_001289408.1:c.-628A>C	NP_001276337.1:n.-628A>C
NM_001289409.1:c.-445A>C	NP_001276338.1:n.-445A>C
NR_110332.1:n.327A>C
NM_001321044.1:c.-203A>C	NP_001307973.1:n.-203A>C
NM_001321045.1:c.-329A>C	NP_001307974.1:n.-329A>C
NM_001321046.1:c.-203A>C	NP_001307975.1:n.-203A>C
NM_001321047.1:c.-380A>C	NP_001307976.1:n.-380A>C
NM_001321048.1:c.-300A>C	NP_001307977.1:n.-300A>C
NM_001321049.1:c.-203A>C	NP_001307978.1:n.-203A>C
NM_001321051.1:c.-203A>C	NP_001307980.1:n.-203A>C
XM_024452965.1:c.-174A>C	XP_024308733.1:n.-174A>C