Canonical Allele Identifier: CA4820936
Gene: POP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3216774
ClinVar RCV Id: RCV004514637
dbSNP Id: rs777450157
ExAC: 8:99170390 G / C
gnomAD v2: 8-99170390-G-C
gnomAD v3: 8-98158162-G-C
gnomAD v4: 8-98158162-G-C
MyVariant Identifiers: chr8:g.99170390G>C (hg19) chr8:g.98158162G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98158162G>C , CM000670.2:g.98158162G>C GRCh38
NC_000008.10:g.99170390G>C , CM000670.1:g.99170390G>C GRCh37
NC_000008.9:g.99239566G>C NCBI36
NG_052869.1:g.45870G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000401707.7:c.2966G>C MANE Select ENSP00000385787.2:p.Gly989Ala
ENST00000349693.3:c.2966G>C ENSP00000339529.3:p.Gly989Ala
ENST00000401707.6:c.2966G>C ENSP00000385787.2:p.Gly989Ala
NM_001145860.1:c.2966G>C NP_001139332.1:p.Gly989Ala
NM_001145861.1:c.2966G>C NP_001139333.1:p.Gly989Ala
NM_015029.2:c.2966G>C NP_055844.2:p.Gly989Ala
NM_001145860.2:c.2966G>C MANE Select NP_001139332.1:p.Gly989Ala
NM_001145861.2:c.2966G>C NP_001139333.1:p.Gly989Ala
NM_015029.3:c.2966G>C NP_055844.2:p.Gly989Ala
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