Canonical Allele Identifier: CA62620331

Gene: PMS1

Linked Data

• dbSNP Id: rs944759201
• gnomAD v3: 2-189784431-C-T
• gnomAD v4: 2-189784431-C-T
• MyVariant Identifiers: chr2:g.190649157C>T (hg19) ; chr2:g.189784431C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784431C>T , CM000664.2:g.189784431C>T	GRCh38
NC_000002.11:g.190649157C>T , CM000664.1:g.190649157C>T	GRCh37
NC_000002.10:g.190357402C>T	NCBI36
NG_008648.1:g.5347C>T , LRG_221:g.5347C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639501.1:c.-183C>T	ENSP00000491236.1:n.-183C>T
ENST00000418224.7:c.-183C>T	ENSP00000404492.4:n.-183C>T
ENST00000432292.7:c.-425C>T	ENSP00000398378.3:n.-425C>T
ENST00000441310.6:c.-183C>T	ENSP00000406490.2:n.-183C>T
ENST00000618056.4:c.-183C>T	ENSP00000480632.1:n.-183C>T
ENST00000624204.3:c.-608C>T	ENSP00000485312.1:n.-608C>T
NM_000534.4:c.-183C>T , LRG_221t1:c.-183C>T	NP_000525.1:n.-183C>T
NM_001128143.1:c.-183C>T	NP_001121615.1:n.-183C>T
NM_001128144.1:c.-183C>T	NP_001121616.1:n.-183C>T
NM_001289408.1:c.-608C>T	NP_001276337.1:n.-608C>T
NM_001289409.1:c.-425C>T	NP_001276338.1:n.-425C>T
NR_110332.1:n.347C>T
NM_001321044.1:c.-183C>T	NP_001307973.1:n.-183C>T
NM_001321045.1:c.-309C>T	NP_001307974.1:n.-309C>T
NM_001321046.1:c.-183C>T	NP_001307975.1:n.-183C>T
NM_001321047.1:c.-360C>T	NP_001307976.1:n.-360C>T
NM_001321048.1:c.-280C>T	NP_001307977.1:n.-280C>T
NM_001321049.1:c.-183C>T	NP_001307978.1:n.-183C>T
NM_001321051.1:c.-183C>T	NP_001307980.1:n.-183C>T
XM_024452965.1:c.-154C>T	XP_024308733.1:n.-154C>T