Canonical Allele Identifier: CA161513

Gene: PMS1

Linked Data

• ClinVar Variation Id: 135047
• ClinVar RCV Id: RCV000121820 ; RCV000968997
• dbSNP Id: rs55859858
• ExAC: 2:190732599 C / G
• gnomAD v2: 2-190732599-C-G
• gnomAD v3: 2-189867873-C-G
• gnomAD v4: 2-189867873-C-G
• MyVariant Identifiers: chr2:g.190732599C>G (hg19) ; chr2:g.189867873C>G (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189867873C>G , CM000664.2:g.189867873C>G	GRCh38
NC_000002.11:g.190732599C>G , CM000664.1:g.190732599C>G	GRCh37
NC_000002.10:g.190440844C>G	NCBI36
NG_008648.1:g.88789C>G , LRG_221:g.88789C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000441310.7:c.2417C>G MANE Select	ENSP00000406490.3:p.Thr806Ser
ENST00000342075.8:c.*1987C>G	ENSP00000343888.4:n.*1987C>G
ENST00000409593.5:c.1286C>G	ENSP00000387169.1:p.Thr429Ser
ENST00000409823.7:c.2300C>G	ENSP00000387125.3:p.Thr767Ser
ENST00000418224.7:c.1971+3899C>G	ENSP00000404492.4:n.1971+3899C>G
ENST00000424059.1:n.1971+3899C>G
ENST00000432292.7:c.1889C>G	ENSP00000398378.3:p.Thr630Ser
ENST00000441310.6:c.2417C>G	ENSP00000406490.2:p.Thr806Ser
ENST00000447232.6:c.1931C>G	ENSP00000401064.2:p.Thr644Ser
ENST00000450931.5:c.*66C>G	ENSP00000406225.1:n.*66C>G
ENST00000452382.1:c.581C>G	ENSP00000396232.1:p.Thr194Ser
ENST00000483293.1:n.607C>G
ENST00000618056.4:c.583-9399C>G	ENSP00000480632.1:n.583-9399C>G
ENST00000624204.3:c.1889C>G	ENSP00000485312.1:p.Thr630Ser
NM_000534.4:c.2417C>G , LRG_221t1:c.2417C>G	NP_000525.1:p.Thr806Ser
NM_001128143.1:c.2300C>G	NP_001121615.1:p.Thr767Ser
NM_001128144.1:c.1931C>G	NP_001121616.1:p.Thr644Ser
NM_001289408.1:c.1889C>G	NP_001276337.1:p.Thr630Ser
NM_001289409.1:c.1889C>G	NP_001276338.1:p.Thr630Ser
NR_110332.1:n.2672C>G
XM_005246647.2:c.2417C>G	XP_005246704.1:p.Thr806Ser
XM_005246649.2:c.2294C>G	XP_005246706.1:p.Thr765Ser
XM_006712596.1:c.1862C>G	XP_006712659.1:p.Thr621Ser
XM_011511353.1:c.2417C>G	XP_011509655.1:p.Thr806Ser
XM_011511354.1:c.2417C>G	XP_011509656.1:p.Thr806Ser
XM_011511355.1:c.2234C>G	XP_011509657.1:p.Thr745Ser
XM_011511356.1:c.1889C>G	XP_011509658.1:p.Thr630Ser
XM_011511357.1:c.1814C>G	XP_011509659.1:p.Thr605Ser
XR_922951.1:n.2555C>G
XR_923696.1:n.90-5695G>C
XR_923697.1:n.285-5695G>C
NM_001321044.1:c.1814C>G	NP_001307973.1:p.Thr605Ser
NM_001321045.1:c.2417C>G	NP_001307974.1:p.Thr806Ser
NM_001321046.1:c.2234C>G	NP_001307975.1:p.Thr745Ser
NM_001321047.1:c.2417C>G	NP_001307976.1:p.Thr806Ser
NM_001321048.1:c.2417C>G	NP_001307977.1:p.Thr806Ser
XM_011511356.3:c.1889C>G	XP_011509658.1:p.Thr630Ser
XM_017004344.1:c.2300C>G	XP_016859833.1:p.Thr767Ser
XM_017004345.1:c.2234C>G	XP_016859834.1:p.Thr745Ser
XM_017004346.2:c.2234C>G	XP_016859835.1:p.Thr745Ser
XM_017004347.1:c.2117C>G	XP_016859836.1:p.Thr706Ser
XM_017004348.1:c.1931C>G	XP_016859837.1:p.Thr644Ser
XM_017004349.2:c.1772C>G	XP_016859838.1:p.Thr591Ser
XM_017004350.1:c.1748C>G	XP_016859839.1:p.Thr583Ser
XM_024452964.1:c.2417C>G	XP_024308732.1:p.Thr806Ser
XM_024452965.1:c.2417C>G	XP_024308733.1:p.Thr806Ser
XM_024452966.1:c.2300C>G	XP_024308734.1:p.Thr767Ser
XM_024452967.1:c.2300C>G	XP_024308735.1:p.Thr767Ser
XM_024452968.1:c.1889C>G	XP_024308736.1:p.Thr630Ser
XM_024452969.1:c.1403C>G	XP_024308737.1:p.Thr468Ser
XR_001738779.1:n.2646C>G
XR_001739149.1:n.90-5695G>C
XR_001739150.1:n.289-5695G>C
XR_002959307.1:n.2651C>G
XR_922951.2:n.2549C>G
NM_000534.5:c.2417C>G MANE Select	NP_000525.1:p.Thr806Ser
NM_001128143.2:c.2300C>G	NP_001121615.1:p.Thr767Ser
NM_001128144.2:c.1931C>G	NP_001121616.1:p.Thr644Ser
NM_001321044.2:c.1814C>G	NP_001307973.1:p.Thr605Ser
NM_001321045.2:c.2417C>G	NP_001307974.1:p.Thr806Ser
NM_001321046.2:c.2234C>G	NP_001307975.1:p.Thr745Ser
NM_001321047.2:c.2417C>G	NP_001307976.1:p.Thr806Ser
NM_001321048.2:c.2417C>G	NP_001307977.1:p.Thr806Ser
NR_110332.2:n.2307C>G
NM_001289408.2:c.1889C>G	NP_001276337.1:p.Thr630Ser
NM_001289409.2:c.1889C>G	NP_001276338.1:p.Thr630Ser