Canonical Allele Identifier: CA62620293

Gene: PMS1

Linked Data

• dbSNP Id: rs536540364
• gnomAD v2: 2-190649100-C-A
• gnomAD v3: 2-189784374-C-A
• gnomAD v4: 2-189784374-C-A
• MyVariant Identifiers: chr2:g.190649100C>A (hg19) ; chr2:g.189784374C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784374C>A , CM000664.2:g.189784374C>A	GRCh38
NC_000002.11:g.190649100C>A , CM000664.1:g.190649100C>A	GRCh37
NC_000002.10:g.190357345C>A	NCBI36
NG_008648.1:g.5290C>A , LRG_221:g.5290C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639501.1:c.-240C>A	ENSP00000491236.1:n.-240C>A
ENST00000418224.7:c.-240C>A	ENSP00000404492.4:n.-240C>A
ENST00000432292.7:c.-482C>A	ENSP00000398378.3:n.-482C>A
ENST00000618056.4:c.-240C>A	ENSP00000480632.1:n.-240C>A
ENST00000624204.3:c.-665C>A	ENSP00000485312.1:n.-665C>A
NM_000534.4:c.-240C>A , LRG_221t1:c.-240C>A	NP_000525.1:n.-240C>A
NM_001128143.1:c.-240C>A	NP_001121615.1:n.-240C>A
NM_001128144.1:c.-240C>A	NP_001121616.1:n.-240C>A
NM_001289408.1:c.-665C>A	NP_001276337.1:n.-665C>A
NM_001289409.1:c.-482C>A	NP_001276338.1:n.-482C>A
NR_110332.1:n.290C>A
NM_001321044.1:c.-240C>A	NP_001307973.1:n.-240C>A
NM_001321045.1:c.-366C>A	NP_001307974.1:n.-366C>A
NM_001321046.1:c.-240C>A	NP_001307975.1:n.-240C>A
NM_001321047.1:c.-417C>A	NP_001307976.1:n.-417C>A
NM_001321048.1:c.-337C>A	NP_001307977.1:n.-337C>A
NM_001321049.1:c.-240C>A	NP_001307978.1:n.-240C>A
NM_001321051.1:c.-240C>A	NP_001307980.1:n.-240C>A
XM_024452965.1:c.-211C>A	XP_024308733.1:n.-211C>A