Canonical Allele Identifier: CA10613527

Gene: PMS1

Linked Data

• dbSNP Id: rs886055366
• gnomAD v4: 2-189784421-T-C
• MyVariant Identifiers: chr2:g.190649147T>C (hg19) ; chr2:g.189784421T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784421T>C , CM000664.2:g.189784421T>C	GRCh38
NC_000002.11:g.190649147T>C , CM000664.1:g.190649147T>C	GRCh37
NC_000002.10:g.190357392T>C	NCBI36
NG_008648.1:g.5337T>C , LRG_221:g.5337T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000639501.1:c.-193T>C	ENSP00000491236.1:n.-193T>C
ENST00000418224.7:c.-193T>C	ENSP00000404492.4:n.-193T>C
ENST00000432292.7:c.-435T>C	ENSP00000398378.3:n.-435T>C
ENST00000441310.6:c.-193T>C	ENSP00000406490.2:n.-193T>C
ENST00000618056.4:c.-193T>C	ENSP00000480632.1:n.-193T>C
ENST00000624204.3:c.-618T>C	ENSP00000485312.1:n.-618T>C
NM_000534.4:c.-193T>C , LRG_221t1:c.-193T>C	NP_000525.1:n.-193T>C
NM_001128143.1:c.-193T>C	NP_001121615.1:n.-193T>C
NM_001128144.1:c.-193T>C	NP_001121616.1:n.-193T>C
NM_001289408.1:c.-618T>C	NP_001276337.1:n.-618T>C
NM_001289409.1:c.-435T>C	NP_001276338.1:n.-435T>C
NR_110332.1:n.337T>C
NM_001321044.1:c.-193T>C	NP_001307973.1:n.-193T>C
NM_001321045.1:c.-319T>C	NP_001307974.1:n.-319T>C
NM_001321046.1:c.-193T>C	NP_001307975.1:n.-193T>C
NM_001321047.1:c.-370T>C	NP_001307976.1:n.-370T>C
NM_001321048.1:c.-290T>C	NP_001307977.1:n.-290T>C
NM_001321049.1:c.-193T>C	NP_001307978.1:n.-193T>C
NM_001321051.1:c.-193T>C	NP_001307980.1:n.-193T>C
XM_024452965.1:c.-164T>C	XP_024308733.1:n.-164T>C