Canonical Allele Identifier: CA4820691
Gene: POP1 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.98148852G>A
GRCh37 chr8:g.99161080G>A
Revel Score:
ENST00000401707 (MANE Select) 0.632
ENST00000349693 0.632
gnomAD v2:
8:99161080 G / A
gnomAD v3:
8:98148852 G / A
gnomAD v4:
chr8-98148852-G-A
Joint Max Group AF 0.00004864 (NFE)
Exomes Max Group AF 0.00005074 (NFE)
ClinVar RCV:
RCV000445638
ClinVar Variation:
393589
dbSNP:
374828868
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98148852G>A , CM000670.2:g.98148852G>A GRCh38
NC_000008.10:g.99161080G>A , CM000670.1:g.99161080G>A GRCh37
NC_000008.9:g.99230256G>A NCBI36
NG_052869.1:g.36560G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401707.7:c.1748G>A MANE Select ENSP00000385787.2:p.Gly583Glu
ENST00000349693.3:c.1748G>A ENSP00000339529.3:p.Gly583Glu
ENST00000401707.6:c.1748G>A ENSP00000385787.2:p.Gly583Glu
NM_001145860.1:c.1748G>A NP_001139332.1:p.Gly583Glu
NM_001145861.1:c.1748G>A NP_001139333.1:p.Gly583Glu
NM_015029.2:c.1748G>A NP_055844.2:p.Gly583Glu
XM_011516800.1:c.1748G>A XP_011515102.1:p.Gly583Glu
NM_001145860.2:c.1748G>A MANE Select NP_001139332.1:p.Gly583Glu
NM_001145861.2:c.1748G>A NP_001139333.1:p.Gly583Glu
NM_015029.3:c.1748G>A NP_055844.2:p.Gly583Glu
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