Canonical Allele Identifier: CA1315746095

Gene: PMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784378G= , CM000664.2:g.189784378G=	GRCh38
NC_000002.11:g.190649104G= , CM000664.1:g.190649104G=	GRCh37
NC_000002.10:g.190357349G=	NCBI36
NG_008648.1:g.5294G= , LRG_221:g.5294G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639501.1:c.-236G=	ENSP00000491236.1:n.-236G=
ENST00000418224.7:c.-236G=	ENSP00000404492.4:n.-236G=
ENST00000432292.7:c.-478G=	ENSP00000398378.3:n.-478G=
ENST00000618056.4:c.-236G=	ENSP00000480632.1:n.-236G=
ENST00000624204.3:c.-661G=	ENSP00000485312.1:n.-661G=
NM_000534.4:c.-236G= , LRG_221t1:c.-236G=	NP_000525.1:n.-236G=
NM_001128143.1:c.-236G=	NP_001121615.1:n.-236G=
NM_001128144.1:c.-236G=	NP_001121616.1:n.-236G=
NM_001289408.1:c.-661G=	NP_001276337.1:n.-661G=
NM_001289409.1:c.-478G=	NP_001276338.1:n.-478G=
NR_110332.1:n.294G=
NM_001321044.1:c.-236G=	NP_001307973.1:n.-236G=
NM_001321045.1:c.-362G=	NP_001307974.1:n.-362G=
NM_001321046.1:c.-236G=	NP_001307975.1:n.-236G=
NM_001321047.1:c.-413G=	NP_001307976.1:n.-413G=
NM_001321048.1:c.-333G=	NP_001307977.1:n.-333G=
NM_001321049.1:c.-236G=	NP_001307978.1:n.-236G=
NM_001321051.1:c.-236G=	NP_001307980.1:n.-236G=
XM_024452965.1:c.-207G=	XP_024308733.1:n.-207G=