Canonical Allele Identifier: CA6243774
Gene: PGR HGNC NCBI
COSMIC:
COSM4145009 (not active)
MyVariant.info:
GRCh38 chr11:g.101128040C>G
GRCh37 chr11:g.100998771C>G
Revel Score:
ENST00000325455 (MANE Select) 0.019
ENST00000263463 0.019
ENST00000537623 0.019
gnomAD v2:
11:100998771 C / G
gnomAD v3:
11:101128040 C / G
gnomAD v4:
chr11-101128040-C-G
Joint Max Group AF 0.16309 (NFE)
Genomes Max Group AF 0.15824758 (NFE)
Exomes Max Group AF 0.16325054 (NFE)
dbSNP:
3740753
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.101128040C>G , CM000673.2:g.101128040C>G GRCh38
NC_000011.9:g.100998771C>G , CM000673.1:g.100998771C>G GRCh37
NC_000011.8:g.100503981C>G NCBI36
NG_016475.1:g.6774G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325455.10:c.1031G>C MANE Select ENSP00000325120.5:p.Ser344Thr
ENST00000263463.9:c.1031G>C ENSP00000263463.5:p.Ser344Thr
ENST00000325455.9:c.1031G>C ENSP00000325120.5:p.Ser344Thr
ENST00000526300.5:c.1031G>C ENSP00000436803.1:p.Ser344Thr
ENST00000528960.5:c.1031G>C ENSP00000432914.1:p.Ser344Thr
ENST00000534013.5:c.-146+1388G>C ENSP00000436561.1:n.-146+1388G>C
ENST00000534780.5:c.1031G>C ENSP00000432352.1:p.Ser344Thr
ENST00000617858.4:c.1031G>C ENSP00000481227.1:p.Ser344Thr
ENST00000619228.2:c.1031G>C ENSP00000482698.1:p.Ser344Thr
NM_000926.4:c.1031G>C MANE Select NP_000917.3:p.Ser344Thr
NM_001202474.3:c.539G>C NP_001189403.1:p.Ser180Thr
NM_001271161.2:c.539G>C NP_001258090.1:p.Ser180Thr
NM_001271162.1:c.-146+1388G>C NP_001258091.1:n.-146+1388G>C
NR_073141.2:n.1024G>C
NR_073142.2:n.1024G>C
NR_073143.2:n.1024G>C
XM_006718858.2:c.1031G>C XP_006718921.1:p.Ser344Thr
XM_011542869.1:c.1031G>C XP_011541171.1:p.Ser344Thr
XR_947831.1:n.2603G>C
XM_006718858.3:c.1031G>C XP_006718921.1:p.Ser344Thr
XM_011542869.2:c.1031G>C XP_011541171.1:p.Ser344Thr
NM_001271162.2:c.-146+1388G>C NP_001258091.1:n.-146+1388G>C
NR_073141.3:n.1038G>C
NR_073142.3:n.1038G>C
NR_073143.3:n.1038G>C
Search 100 bp 5'
Search 100 bp 3'