Canonical Allele Identifier: CA1315746112
Gene: PMS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189784407G= , CM000664.2:g.189784407G= GRCh38
NC_000002.11:g.190649133G= , CM000664.1:g.190649133G= GRCh37
NC_000002.10:g.190357378G= NCBI36
NG_008648.1:g.5323G= , LRG_221:g.5323G=

Transcript Alleles

HGVS Amino-acid change
ENST00000639501.1:c.-207G= ENSP00000491236.1:n.-207G=
ENST00000418224.7:c.-207G= ENSP00000404492.4:n.-207G=
ENST00000432292.7:c.-449G= ENSP00000398378.3:n.-449G=
ENST00000441310.6:c.-207G= ENSP00000406490.2:n.-207G=
ENST00000618056.4:c.-207G= ENSP00000480632.1:n.-207G=
ENST00000624204.3:c.-632G= ENSP00000485312.1:n.-632G=
NM_000534.4:c.-207G= , LRG_221t1:c.-207G= NP_000525.1:n.-207G=
NM_001128143.1:c.-207G= NP_001121615.1:n.-207G=
NM_001128144.1:c.-207G= NP_001121616.1:n.-207G=
NM_001289408.1:c.-632G= NP_001276337.1:n.-632G=
NM_001289409.1:c.-449G= NP_001276338.1:n.-449G=
NR_110332.1:n.323G=
NM_001321044.1:c.-207G= NP_001307973.1:n.-207G=
NM_001321045.1:c.-333G= NP_001307974.1:n.-333G=
NM_001321046.1:c.-207G= NP_001307975.1:n.-207G=
NM_001321047.1:c.-384G= NP_001307976.1:n.-384G=
NM_001321048.1:c.-304G= NP_001307977.1:n.-304G=
NM_001321049.1:c.-207G= NP_001307978.1:n.-207G=
NM_001321051.1:c.-207G= NP_001307980.1:n.-207G=
XM_024452965.1:c.-178G= XP_024308733.1:n.-178G=