Canonical Allele Identifier: CA1315746123

Gene: PMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784429C= , CM000664.2:g.189784429C=	GRCh38
NC_000002.11:g.190649155C= , CM000664.1:g.190649155C=	GRCh37
NC_000002.10:g.190357400C=	NCBI36
NG_008648.1:g.5345C= , LRG_221:g.5345C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639501.1:c.-185C=	ENSP00000491236.1:n.-185C=
ENST00000418224.7:c.-185C=	ENSP00000404492.4:n.-185C=
ENST00000432292.7:c.-427C=	ENSP00000398378.3:n.-427C=
ENST00000441310.6:c.-185C=	ENSP00000406490.2:n.-185C=
ENST00000618056.4:c.-185C=	ENSP00000480632.1:n.-185C=
ENST00000624204.3:c.-610C=	ENSP00000485312.1:n.-610C=
NM_000534.4:c.-185C= , LRG_221t1:c.-185C=	NP_000525.1:n.-185C=
NM_001128143.1:c.-185C=	NP_001121615.1:n.-185C=
NM_001128144.1:c.-185C=	NP_001121616.1:n.-185C=
NM_001289408.1:c.-610C=	NP_001276337.1:n.-610C=
NM_001289409.1:c.-427C=	NP_001276338.1:n.-427C=
NR_110332.1:n.345C=
NM_001321044.1:c.-185C=	NP_001307973.1:n.-185C=
NM_001321045.1:c.-311C=	NP_001307974.1:n.-311C=
NM_001321046.1:c.-185C=	NP_001307975.1:n.-185C=
NM_001321047.1:c.-362C=	NP_001307976.1:n.-362C=
NM_001321048.1:c.-282C=	NP_001307977.1:n.-282C=
NM_001321049.1:c.-185C=	NP_001307978.1:n.-185C=
NM_001321051.1:c.-185C=	NP_001307980.1:n.-185C=
XM_024452965.1:c.-156C=	XP_024308733.1:n.-156C=