Canonical Allele Identifier: CA1387895
Gene: PROX1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.213997091G>A
GRCh37 chr1:g.214170434G>A
Revel Score:
ENST00000471129 0.150
ENST00000498508 0.150
ENST00000366958 (MANE Select) 0.150
ENST00000435016 0.150
ENST00000261454 0.150
gnomAD v2:
1:214170434 G / A
gnomAD v3:
1:213997091 G / A
gnomAD v4:
chr1-213997091-G-A
Joint Max Group AF 0.00005463 (NFE)
Exomes Max Group AF 0.00005797 (NFE)
ClinVar RCV:
RCV004147246
ClinVar Variation:
2296668
dbSNP:
149162531
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.213997091G>A , CM000663.2:g.213997091G>A GRCh38
NC_000001.10:g.214170434G>A , CM000663.1:g.214170434G>A GRCh37
NC_000001.9:g.212237057G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366958.9:c.556G>A MANE Select ENSP00000355925.4:p.Gly186Ser
ENST00000261454.8:c.556G>A ENSP00000261454.4:p.Gly186Ser
ENST00000366958.8:c.556G>A ENSP00000355925.4:p.Gly186Ser
ENST00000435016.2:c.556G>A ENSP00000400694.1:p.Gly186Ser
ENST00000471129.1:c.556G>A ENSP00000419517.1:p.Gly186Ser
ENST00000498508.6:c.556G>A ENSP00000420283.2:p.Gly186Ser
NM_001270616.1:c.556G>A NP_001257545.1:p.Gly186Ser
NM_002763.4:c.556G>A NP_002754.2:p.Gly186Ser
XM_005273194.1:c.556G>A XP_005273251.1:p.Gly186Ser
XM_005273195.3:c.556G>A XP_005273252.1:p.Gly186Ser
XM_011509771.1:c.556G>A XP_011508073.1:p.Gly186Ser
XM_011509772.1:c.556G>A XP_011508074.1:p.Gly186Ser
XM_011509773.1:c.556G>A XP_011508075.1:p.Gly186Ser
XM_011509774.1:c.556G>A XP_011508076.1:p.Gly186Ser
XM_005273194.2:c.556G>A XP_005273251.1:p.Gly186Ser
XM_005273195.4:c.556G>A XP_005273252.1:p.Gly186Ser
XM_011509772.2:c.556G>A XP_011508074.1:p.Gly186Ser
XM_011509773.2:c.556G>A XP_011508075.1:p.Gly186Ser
XM_017001832.1:c.556G>A XP_016857321.1:p.Gly186Ser
XM_017001833.1:c.556G>A XP_016857322.1:p.Gly186Ser
NM_001270616.2:c.556G>A MANE Select NP_001257545.1:p.Gly186Ser
NM_002763.5:c.556G>A NP_002754.2:p.Gly186Ser
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