Canonical Allele Identifier: CA2662343405

Gene: PMS1

Linked Data

• gnomAD v4: 2-189784419-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784419T>A , CM000664.2:g.189784419T>A	GRCh38
NC_000002.11:g.190649145T>A , CM000664.1:g.190649145T>A	GRCh37
NC_000002.10:g.190357390T>A	NCBI36
NG_008648.1:g.5335T>A , LRG_221:g.5335T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639501.1:c.-195T>A	ENSP00000491236.1:n.-195T>A
ENST00000418224.7:c.-195T>A	ENSP00000404492.4:n.-195T>A
ENST00000432292.7:c.-437T>A	ENSP00000398378.3:n.-437T>A
ENST00000441310.6:c.-195T>A	ENSP00000406490.2:n.-195T>A
ENST00000618056.4:c.-195T>A	ENSP00000480632.1:n.-195T>A
ENST00000624204.3:c.-620T>A	ENSP00000485312.1:n.-620T>A
NM_000534.4:c.-195T>A , LRG_221t1:c.-195T>A	NP_000525.1:n.-195T>A
NM_001128143.1:c.-195T>A	NP_001121615.1:n.-195T>A
NM_001128144.1:c.-195T>A	NP_001121616.1:n.-195T>A
NM_001289408.1:c.-620T>A	NP_001276337.1:n.-620T>A
NM_001289409.1:c.-437T>A	NP_001276338.1:n.-437T>A
NR_110332.1:n.335T>A
NM_001321044.1:c.-195T>A	NP_001307973.1:n.-195T>A
NM_001321045.1:c.-321T>A	NP_001307974.1:n.-321T>A
NM_001321046.1:c.-195T>A	NP_001307975.1:n.-195T>A
NM_001321047.1:c.-372T>A	NP_001307976.1:n.-372T>A
NM_001321048.1:c.-292T>A	NP_001307977.1:n.-292T>A
NM_001321049.1:c.-195T>A	NP_001307978.1:n.-195T>A
NM_001321051.1:c.-195T>A	NP_001307980.1:n.-195T>A
XM_024452965.1:c.-166T>A	XP_024308733.1:n.-166T>A