Canonical Allele Identifier: CA4820915
Gene: POP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2067865
ClinVar RCV Id: RCV002970716
dbSNP Id: rs769305239
ExAC: 8:99170241 G / A
gnomAD v2: 8-99170241-G-A
gnomAD v3: 8-98158013-G-A
gnomAD v4: 8-98158013-G-A
MyVariant Identifiers: chr8:g.99170241G>A (hg19) chr8:g.98158013G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98158013G>A , CM000670.2:g.98158013G>A GRCh38
NC_000008.10:g.99170241G>A , CM000670.1:g.99170241G>A GRCh37
NC_000008.9:g.99239417G>A NCBI36
NG_052869.1:g.45721G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401707.7:c.2817G>A MANE Select ENSP00000385787.2:p.Gly939=
ENST00000349693.3:c.2817G>A ENSP00000339529.3:p.Gly939=
ENST00000401707.6:c.2817G>A ENSP00000385787.2:p.Gly939=
NM_001145860.1:c.2817G>A NP_001139332.1:p.Gly939=
NM_001145861.1:c.2817G>A NP_001139333.1:p.Gly939=
NM_015029.2:c.2817G>A NP_055844.2:p.Gly939=
NM_001145860.2:c.2817G>A MANE Select NP_001139332.1:p.Gly939=
NM_001145861.2:c.2817G>A NP_001139333.1:p.Gly939=
NM_015029.3:c.2817G>A NP_055844.2:p.Gly939=
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