Canonical Allele Identifier: CA161519

Gene: PMS1

Linked Data

• ClinVar Variation Id: 135049
• ClinVar RCV Id: RCV000121822 ; RCV000886431
• dbSNP Id: rs1145234
• ExAC: 2:190732559 T / C
• gnomAD v2: 2-190732559-T-C
• gnomAD v3: 2-189867833-T-C
• gnomAD v4: 2-189867833-T-C
• MyVariant Identifiers: chr2:g.190732559T>C (hg19) ; chr2:g.189867833T>C (hg38)
• PubMed: PMID:24728327

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000441310.7:c.2377T>C MANE Select	ENSP00000406490.3:p.Tyr793His
ENST00000342075.8:c.*1947T>C	ENSP00000343888.4:n.*1947T>C
ENST00000409593.5:c.1246T>C	ENSP00000387169.1:p.Tyr416His
ENST00000409823.7:c.2260T>C	ENSP00000387125.3:p.Tyr754His
ENST00000418224.7:c.1971+3859T>C	ENSP00000404492.4:n.1971+3859T>C
ENST00000424059.1:n.1971+3859T>C
ENST00000432292.7:c.1849T>C	ENSP00000398378.3:p.Tyr617His
ENST00000441310.6:c.2377T>C	ENSP00000406490.2:p.Tyr793His
ENST00000447232.6:c.1891T>C	ENSP00000401064.2:p.Tyr631His
ENST00000450931.5:c.*26T>C	ENSP00000406225.1:n.*26T>C
ENST00000452382.1:c.541T>C	ENSP00000396232.1:p.Tyr181His
ENST00000483293.1:n.567T>C
ENST00000618056.4:c.583-9439T>C	ENSP00000480632.1:n.583-9439T>C
ENST00000624204.3:c.1849T>C	ENSP00000485312.1:p.Tyr617His
NM_000534.4:c.2377T>C , LRG_221t1:c.2377T>C	NP_000525.1:p.Tyr793His
NM_001128143.1:c.2260T>C	NP_001121615.1:p.Tyr754His
NM_001128144.1:c.1891T>C	NP_001121616.1:p.Tyr631His
NM_001289408.1:c.1849T>C	NP_001276337.1:p.Tyr617His
NM_001289409.1:c.1849T>C	NP_001276338.1:p.Tyr617His
NR_110332.1:n.2632T>C
XM_005246647.2:c.2377T>C	XP_005246704.1:p.Tyr793His
XM_005246649.2:c.2254T>C	XP_005246706.1:p.Tyr752His
XM_006712596.1:c.1822T>C	XP_006712659.1:p.Tyr608His
XM_011511353.1:c.2377T>C	XP_011509655.1:p.Tyr793His
XM_011511354.1:c.2377T>C	XP_011509656.1:p.Tyr793His
XM_011511355.1:c.2194T>C	XP_011509657.1:p.Tyr732His
XM_011511356.1:c.1849T>C	XP_011509658.1:p.Tyr617His
XM_011511357.1:c.1774T>C	XP_011509659.1:p.Tyr592His
XR_922951.1:n.2515T>C
XR_923696.1:n.90-5655A>G
XR_923697.1:n.285-5655A>G
NM_001321044.1:c.1774T>C	NP_001307973.1:p.Tyr592His
NM_001321045.1:c.2377T>C	NP_001307974.1:p.Tyr793His
NM_001321046.1:c.2194T>C	NP_001307975.1:p.Tyr732His
NM_001321047.1:c.2377T>C	NP_001307976.1:p.Tyr793His
NM_001321048.1:c.2377T>C	NP_001307977.1:p.Tyr793His
XM_011511356.3:c.1849T>C	XP_011509658.1:p.Tyr617His
XM_017004344.1:c.2260T>C	XP_016859833.1:p.Tyr754His
XM_017004345.1:c.2194T>C	XP_016859834.1:p.Tyr732His
XM_017004346.2:c.2194T>C	XP_016859835.1:p.Tyr732His
XM_017004347.1:c.2077T>C	XP_016859836.1:p.Tyr693His
XM_017004348.1:c.1891T>C	XP_016859837.1:p.Tyr631His
XM_017004349.2:c.1732T>C	XP_016859838.1:p.Tyr578His
XM_017004350.1:c.1708T>C	XP_016859839.1:p.Tyr570His
XM_024452964.1:c.2377T>C	XP_024308732.1:p.Tyr793His
XM_024452965.1:c.2377T>C	XP_024308733.1:p.Tyr793His
XM_024452966.1:c.2260T>C	XP_024308734.1:p.Tyr754His
XM_024452967.1:c.2260T>C	XP_024308735.1:p.Tyr754His
XM_024452968.1:c.1849T>C	XP_024308736.1:p.Tyr617His
XM_024452969.1:c.1363T>C	XP_024308737.1:p.Tyr455His
XR_001738779.1:n.2606T>C
XR_001739149.1:n.90-5655A>G
XR_001739150.1:n.289-5655A>G
XR_002959307.1:n.2611T>C
XR_922951.2:n.2509T>C
NM_000534.5:c.2377T>C MANE Select	NP_000525.1:p.Tyr793His
NM_001128143.2:c.2260T>C	NP_001121615.1:p.Tyr754His
NM_001128144.2:c.1891T>C	NP_001121616.1:p.Tyr631His
NM_001321044.2:c.1774T>C	NP_001307973.1:p.Tyr592His
NM_001321045.2:c.2377T>C	NP_001307974.1:p.Tyr793His
NM_001321046.2:c.2194T>C	NP_001307975.1:p.Tyr732His
NM_001321047.2:c.2377T>C	NP_001307976.1:p.Tyr793His
NM_001321048.2:c.2377T>C	NP_001307977.1:p.Tyr793His
NR_110332.2:n.2267T>C
NM_001289408.2:c.1849T>C	NP_001276337.1:p.Tyr617His
NM_001289409.2:c.1849T>C	NP_001276338.1:p.Tyr617His