Canonical Allele Identifier: CA161522

Gene: PMS1

Linked Data

• ClinVar Variation Id: 135050
• ClinVar RCV Id: RCV000121823
• dbSNP Id: rs1145234
• MyVariant Identifiers: chr2:g.190732559T>G (hg19) ; chr2:g.189867833T>G (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189867833T>G , CM000664.2:g.189867833T>G	GRCh38
NC_000002.11:g.190732559T>G , CM000664.1:g.190732559T>G	GRCh37
NC_000002.10:g.190440804T>G	NCBI36
NG_008648.1:g.88749T>G , LRG_221:g.88749T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000441310.7:c.2377T>G MANE Select	ENSP00000406490.3:p.Tyr793Asp
ENST00000342075.8:c.*1947T>G	ENSP00000343888.4:n.*1947T>G
ENST00000409593.5:c.1246T>G	ENSP00000387169.1:p.Tyr416Asp
ENST00000409823.7:c.2260T>G	ENSP00000387125.3:p.Tyr754Asp
ENST00000418224.7:c.1971+3859T>G	ENSP00000404492.4:n.1971+3859T>G
ENST00000424059.1:n.1971+3859T>G
ENST00000432292.7:c.1849T>G	ENSP00000398378.3:p.Tyr617Asp
ENST00000441310.6:c.2377T>G	ENSP00000406490.2:p.Tyr793Asp
ENST00000447232.6:c.1891T>G	ENSP00000401064.2:p.Tyr631Asp
ENST00000450931.5:c.*26T>G	ENSP00000406225.1:n.*26T>G
ENST00000452382.1:c.541T>G	ENSP00000396232.1:p.Tyr181Asp
ENST00000483293.1:n.567T>G
ENST00000618056.4:c.583-9439T>G	ENSP00000480632.1:n.583-9439T>G
ENST00000624204.3:c.1849T>G	ENSP00000485312.1:p.Tyr617Asp
NM_000534.4:c.2377T>G , LRG_221t1:c.2377T>G	NP_000525.1:p.Tyr793Asp
NM_001128143.1:c.2260T>G	NP_001121615.1:p.Tyr754Asp
NM_001128144.1:c.1891T>G	NP_001121616.1:p.Tyr631Asp
NM_001289408.1:c.1849T>G	NP_001276337.1:p.Tyr617Asp
NM_001289409.1:c.1849T>G	NP_001276338.1:p.Tyr617Asp
NR_110332.1:n.2632T>G
XM_005246647.2:c.2377T>G	XP_005246704.1:p.Tyr793Asp
XM_005246649.2:c.2254T>G	XP_005246706.1:p.Tyr752Asp
XM_006712596.1:c.1822T>G	XP_006712659.1:p.Tyr608Asp
XM_011511353.1:c.2377T>G	XP_011509655.1:p.Tyr793Asp
XM_011511354.1:c.2377T>G	XP_011509656.1:p.Tyr793Asp
XM_011511355.1:c.2194T>G	XP_011509657.1:p.Tyr732Asp
XM_011511356.1:c.1849T>G	XP_011509658.1:p.Tyr617Asp
XM_011511357.1:c.1774T>G	XP_011509659.1:p.Tyr592Asp
XR_922951.1:n.2515T>G
XR_923696.1:n.90-5655A>C
XR_923697.1:n.285-5655A>C
NM_001321044.1:c.1774T>G	NP_001307973.1:p.Tyr592Asp
NM_001321045.1:c.2377T>G	NP_001307974.1:p.Tyr793Asp
NM_001321046.1:c.2194T>G	NP_001307975.1:p.Tyr732Asp
NM_001321047.1:c.2377T>G	NP_001307976.1:p.Tyr793Asp
NM_001321048.1:c.2377T>G	NP_001307977.1:p.Tyr793Asp
XM_011511356.3:c.1849T>G	XP_011509658.1:p.Tyr617Asp
XM_017004344.1:c.2260T>G	XP_016859833.1:p.Tyr754Asp
XM_017004345.1:c.2194T>G	XP_016859834.1:p.Tyr732Asp
XM_017004346.2:c.2194T>G	XP_016859835.1:p.Tyr732Asp
XM_017004347.1:c.2077T>G	XP_016859836.1:p.Tyr693Asp
XM_017004348.1:c.1891T>G	XP_016859837.1:p.Tyr631Asp
XM_017004349.2:c.1732T>G	XP_016859838.1:p.Tyr578Asp
XM_017004350.1:c.1708T>G	XP_016859839.1:p.Tyr570Asp
XM_024452964.1:c.2377T>G	XP_024308732.1:p.Tyr793Asp
XM_024452965.1:c.2377T>G	XP_024308733.1:p.Tyr793Asp
XM_024452966.1:c.2260T>G	XP_024308734.1:p.Tyr754Asp
XM_024452967.1:c.2260T>G	XP_024308735.1:p.Tyr754Asp
XM_024452968.1:c.1849T>G	XP_024308736.1:p.Tyr617Asp
XM_024452969.1:c.1363T>G	XP_024308737.1:p.Tyr455Asp
XR_001738779.1:n.2606T>G
XR_001739149.1:n.90-5655A>C
XR_001739150.1:n.289-5655A>C
XR_002959307.1:n.2611T>G
XR_922951.2:n.2509T>G
NM_000534.5:c.2377T>G MANE Select	NP_000525.1:p.Tyr793Asp
NM_001128143.2:c.2260T>G	NP_001121615.1:p.Tyr754Asp
NM_001128144.2:c.1891T>G	NP_001121616.1:p.Tyr631Asp
NM_001321044.2:c.1774T>G	NP_001307973.1:p.Tyr592Asp
NM_001321045.2:c.2377T>G	NP_001307974.1:p.Tyr793Asp
NM_001321046.2:c.2194T>G	NP_001307975.1:p.Tyr732Asp
NM_001321047.2:c.2377T>G	NP_001307976.1:p.Tyr793Asp
NM_001321048.2:c.2377T>G	NP_001307977.1:p.Tyr793Asp
NR_110332.2:n.2267T>G
NM_001289408.2:c.1849T>G	NP_001276337.1:p.Tyr617Asp
NM_001289409.2:c.1849T>G	NP_001276338.1:p.Tyr617Asp