Canonical Allele Identifier: CA1040452303

Gene: PMS1

Linked Data

• dbSNP Id: rs1412843378
• gnomAD v3: 2-189784420-C-T
• gnomAD v4: 2-189784420-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784420C>T , CM000664.2:g.189784420C>T	GRCh38
NC_000002.11:g.190649146C>T , CM000664.1:g.190649146C>T	GRCh37
NC_000002.10:g.190357391C>T	NCBI36
NG_008648.1:g.5336C>T , LRG_221:g.5336C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639501.1:c.-194C>T	ENSP00000491236.1:n.-194C>T
ENST00000418224.7:c.-194C>T	ENSP00000404492.4:n.-194C>T
ENST00000432292.7:c.-436C>T	ENSP00000398378.3:n.-436C>T
ENST00000441310.6:c.-194C>T	ENSP00000406490.2:n.-194C>T
ENST00000618056.4:c.-194C>T	ENSP00000480632.1:n.-194C>T
ENST00000624204.3:c.-619C>T	ENSP00000485312.1:n.-619C>T
NM_000534.4:c.-194C>T , LRG_221t1:c.-194C>T	NP_000525.1:n.-194C>T
NM_001128143.1:c.-194C>T	NP_001121615.1:n.-194C>T
NM_001128144.1:c.-194C>T	NP_001121616.1:n.-194C>T
NM_001289408.1:c.-619C>T	NP_001276337.1:n.-619C>T
NM_001289409.1:c.-436C>T	NP_001276338.1:n.-436C>T
NR_110332.1:n.336C>T
NM_001321044.1:c.-194C>T	NP_001307973.1:n.-194C>T
NM_001321045.1:c.-320C>T	NP_001307974.1:n.-320C>T
NM_001321046.1:c.-194C>T	NP_001307975.1:n.-194C>T
NM_001321047.1:c.-371C>T	NP_001307976.1:n.-371C>T
NM_001321048.1:c.-291C>T	NP_001307977.1:n.-291C>T
NM_001321049.1:c.-194C>T	NP_001307978.1:n.-194C>T
NM_001321051.1:c.-194C>T	NP_001307980.1:n.-194C>T
XM_024452965.1:c.-165C>T	XP_024308733.1:n.-165C>T