Canonical Allele Identifier: CA2026317
Gene: PMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 708165
ClinVar RCV Id: RCV000879375
dbSNP Id: rs143265397

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189795811G>A , CM000664.2:g.189795811G>A GRCh38
NC_000002.11:g.190660537G>A , CM000664.1:g.190660537G>A GRCh37
NC_000002.10:g.190368782G>A NCBI36
NG_008648.1:g.16727G>A , LRG_221:g.16727G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342075.8:c.175G>A ENSP00000343888.4:p.Glu59Lys
ENST00000374826.8:c.175G>A ENSP00000363959.4:p.Glu59Lys
ENST00000409823.7:c.175G>A ENSP00000387125.3:p.Glu59Lys
ENST00000409985.5:c.175G>A ENSP00000386623.1:p.Glu59Lys
ENST00000418224.7:c.175G>A ENSP00000404492.4:p.Glu59Lys
ENST00000420421.1:c.175G>A ENSP00000391136.1:p.Glu59Lys
ENST00000424307.5:c.132+3870G>A ENSP00000389938.1:p.=
ENST00000424766.5:c.175G>A ENSP00000410082.1:p.Glu59Lys
ENST00000432292.7:c.-111+3870G>A ENSP00000398378.3:p.=
ENST00000441310.6:c.175G>A ENSP00000406490.2:p.Glu59Lys
ENST00000447232.6:c.175G>A ENSP00000401064.2:p.Glu59Lys
ENST00000447734.5:c.132+3870G>A ENSP00000411151.1:p.=
ENST00000450931.5:c.175G>A ENSP00000406225.1:p.Glu59Lys
ENST00000618056.4:c.175G>A ENSP00000480632.1:p.Glu59Lys
ENST00000624204.3:c.-251G>A ENSP00000485312.1:p.=
NM_000534.4:c.175G>A , LRG_221t1:c.175G>A NP_000525.1:p.Glu59Lys
NM_001128143.1:c.175G>A NP_001121615.1:p.Glu59Lys
NM_001128144.1:c.175G>A NP_001121616.1:p.Glu59Lys
NM_001289408.1:c.-251G>A NP_001276337.1:p.=
NM_001289409.1:c.-111+3870G>A NP_001276338.1:p.=
XM_005246647.2:c.175G>A XP_005246704.1:p.Glu59Lys
XM_005246649.2:c.175G>A XP_005246706.1:p.Glu59Lys
XM_011511353.1:c.175G>A XP_011509655.1:p.Glu59Lys
XM_011511354.1:c.175G>A XP_011509656.1:p.Glu59Lys
XM_011511355.1:c.132+3870G>A XP_011509657.1:p.=
XM_011511357.1:c.175G>A XP_011509659.1:p.Glu59Lys
NM_001321044.1:c.175G>A NP_001307973.1:p.Glu59Lys
NM_001321045.1:c.175G>A NP_001307974.1:p.Glu59Lys
NM_001321046.1:c.132+3870G>A NP_001307975.1:p.=
NM_001321047.1:c.175G>A NP_001307976.1:p.Glu59Lys
NM_001321048.1:c.175G>A NP_001307977.1:p.Glu59Lys
NM_001321049.1:c.175G>A NP_001307978.1:p.Glu59Lys
NM_001321051.1:c.175G>A NP_001307980.1:p.Glu59Lys
XM_011511356.3:c.-1149G>A XP_011509658.1:p.=
XM_017004344.1:c.175G>A XP_016859833.1:p.Glu59Lys
XM_017004345.1:c.132+3870G>A XP_016859834.1:p.=
XM_017004346.2:c.132+3870G>A XP_016859835.1:p.=
XM_017004347.1:c.132+3870G>A XP_016859836.1:p.=
XM_017004348.1:c.175G>A XP_016859837.1:p.Glu59Lys
XM_017004349.2:c.-1149G>A XP_016859838.1:p.=
XM_017004350.1:c.132+3870G>A XP_016859839.1:p.=
XM_024452964.1:c.175G>A XP_024308732.1:p.Glu59Lys
XM_024452965.1:c.175G>A XP_024308733.1:p.Glu59Lys
XM_024452966.1:c.175G>A XP_024308734.1:p.Glu59Lys
XM_024452967.1:c.175G>A XP_024308735.1:p.Glu59Lys
XM_024452968.1:c.-251G>A XP_024308736.1:p.=
XM_024452969.1:c.-251G>A XP_024308737.1:p.=
NM_000534.5:c.175G>A MANE Select NP_000525.1:p.Glu59Lys
NM_001128143.2:c.175G>A NP_001121615.1:p.Glu59Lys
NM_001128144.2:c.175G>A NP_001121616.1:p.Glu59Lys
NM_001321044.2:c.175G>A NP_001307973.1:p.Glu59Lys
NM_001321045.2:c.175G>A NP_001307974.1:p.Glu59Lys
NM_001321046.2:c.132+3870G>A NP_001307975.1:p.=
NM_001321047.2:c.175G>A NP_001307976.1:p.Glu59Lys
NM_001321048.2:c.175G>A NP_001307977.1:p.Glu59Lys
NM_001321049.2:c.175G>A NP_001307978.1:p.Glu59Lys
NM_001289408.2:c.-251G>A NP_001276337.1:p.=
NM_001289409.2:c.-111+3870G>A NP_001276338.1:p.=
NM_001321051.2:c.175G>A NP_001307980.1:p.Glu59Lys