Canonical Allele Identifier: CA1315746100

Gene: PMS1

Linked Data

• dbSNP Id: rs2048051604

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784383A>C , CM000664.2:g.189784383A>C	GRCh38
NC_000002.11:g.190649109A>C , CM000664.1:g.190649109A>C	GRCh37
NC_000002.10:g.190357354A>C	NCBI36
NG_008648.1:g.5299A>C , LRG_221:g.5299A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639501.1:c.-231A>C	ENSP00000491236.1:n.-231A>C
ENST00000418224.7:c.-231A>C	ENSP00000404492.4:n.-231A>C
ENST00000432292.7:c.-473A>C	ENSP00000398378.3:n.-473A>C
ENST00000441310.6:c.-231A>C	ENSP00000406490.2:n.-231A>C
ENST00000618056.4:c.-231A>C	ENSP00000480632.1:n.-231A>C
ENST00000624204.3:c.-656A>C	ENSP00000485312.1:n.-656A>C
NM_000534.4:c.-231A>C , LRG_221t1:c.-231A>C	NP_000525.1:n.-231A>C
NM_001128143.1:c.-231A>C	NP_001121615.1:n.-231A>C
NM_001128144.1:c.-231A>C	NP_001121616.1:n.-231A>C
NM_001289408.1:c.-656A>C	NP_001276337.1:n.-656A>C
NM_001289409.1:c.-473A>C	NP_001276338.1:n.-473A>C
NR_110332.1:n.299A>C
NM_001321044.1:c.-231A>C	NP_001307973.1:n.-231A>C
NM_001321045.1:c.-357A>C	NP_001307974.1:n.-357A>C
NM_001321046.1:c.-231A>C	NP_001307975.1:n.-231A>C
NM_001321047.1:c.-408A>C	NP_001307976.1:n.-408A>C
NM_001321048.1:c.-328A>C	NP_001307977.1:n.-328A>C
NM_001321049.1:c.-231A>C	NP_001307978.1:n.-231A>C
NM_001321051.1:c.-231A>C	NP_001307980.1:n.-231A>C
XM_024452965.1:c.-202A>C	XP_024308733.1:n.-202A>C