Canonical Allele Identifier: CA1315746119

Gene: PMS1

Linked Data

• dbSNP Id: rs2048055118

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784425G>C , CM000664.2:g.189784425G>C	GRCh38
NC_000002.11:g.190649151G>C , CM000664.1:g.190649151G>C	GRCh37
NC_000002.10:g.190357396G>C	NCBI36
NG_008648.1:g.5341G>C , LRG_221:g.5341G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639501.1:c.-189G>C	ENSP00000491236.1:n.-189G>C
ENST00000418224.7:c.-189G>C	ENSP00000404492.4:n.-189G>C
ENST00000432292.7:c.-431G>C	ENSP00000398378.3:n.-431G>C
ENST00000441310.6:c.-189G>C	ENSP00000406490.2:n.-189G>C
ENST00000618056.4:c.-189G>C	ENSP00000480632.1:n.-189G>C
ENST00000624204.3:c.-614G>C	ENSP00000485312.1:n.-614G>C
NM_000534.4:c.-189G>C , LRG_221t1:c.-189G>C	NP_000525.1:n.-189G>C
NM_001128143.1:c.-189G>C	NP_001121615.1:n.-189G>C
NM_001128144.1:c.-189G>C	NP_001121616.1:n.-189G>C
NM_001289408.1:c.-614G>C	NP_001276337.1:n.-614G>C
NM_001289409.1:c.-431G>C	NP_001276338.1:n.-431G>C
NR_110332.1:n.341G>C
NM_001321044.1:c.-189G>C	NP_001307973.1:n.-189G>C
NM_001321045.1:c.-315G>C	NP_001307974.1:n.-315G>C
NM_001321046.1:c.-189G>C	NP_001307975.1:n.-189G>C
NM_001321047.1:c.-366G>C	NP_001307976.1:n.-366G>C
NM_001321048.1:c.-286G>C	NP_001307977.1:n.-286G>C
NM_001321049.1:c.-189G>C	NP_001307978.1:n.-189G>C
NM_001321051.1:c.-189G>C	NP_001307980.1:n.-189G>C
XM_024452965.1:c.-160G>C	XP_024308733.1:n.-160G>C