Canonical Allele Identifier: CA4820931
Gene: POP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1984185
ClinVar RCV Id: RCV002800199
dbSNP Id: rs376320728
ExAC: 8:99170334 A / T
gnomAD v2: 8-99170334-A-T
gnomAD v3: 8-98158106-A-T
gnomAD v4: 8-98158106-A-T
MyVariant Identifiers: chr8:g.99170334A>T (hg19) chr8:g.99170334_99170335delinsTG (hg19) chr8:g.98158106A>T (hg38) chr8:g.98158106_98158107delinsTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98158106A>T , CM000670.2:g.98158106A>T GRCh38
NC_000008.10:g.99170334A>T , CM000670.1:g.99170334A>T GRCh37
NC_000008.9:g.99239510A>T NCBI36
NG_052869.1:g.45814A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000401707.7:c.2910A>T MANE Select ENSP00000385787.2:p.Gly970=
ENST00000349693.3:c.2910A>T ENSP00000339529.3:p.Gly970=
ENST00000401707.6:c.2910A>T ENSP00000385787.2:p.Gly970=
NM_001145860.1:c.2910A>T NP_001139332.1:p.Gly970=
NM_001145861.1:c.2910A>T NP_001139333.1:p.Gly970=
NM_015029.2:c.2910A>T NP_055844.2:p.Gly970=
NM_001145860.2:c.2910A>T MANE Select NP_001139332.1:p.Gly970=
NM_001145861.2:c.2910A>T NP_001139333.1:p.Gly970=
NM_015029.3:c.2910A>T NP_055844.2:p.Gly970=
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