Canonical Allele Identifier: CA4820934
Gene: POP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1984186
ClinVar RCV Id: RCV002775369
dbSNP Id: rs368501096
ExAC: 8:99170350 G / T
gnomAD v2: 8-99170350-G-T
gnomAD v3: 8-98158122-G-T
gnomAD v4: 8-98158122-G-T
MyVariant Identifiers: chr8:g.99170350G>T (hg19) chr8:g.98158122G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98158122G>T , CM000670.2:g.98158122G>T GRCh38
NC_000008.10:g.99170350G>T , CM000670.1:g.99170350G>T GRCh37
NC_000008.9:g.99239526G>T NCBI36
NG_052869.1:g.45830G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000401707.7:c.2926G>T MANE Select ENSP00000385787.2:p.Val976Phe
ENST00000349693.3:c.2926G>T ENSP00000339529.3:p.Val976Phe
ENST00000401707.6:c.2926G>T ENSP00000385787.2:p.Val976Phe
NM_001145860.1:c.2926G>T NP_001139332.1:p.Val976Phe
NM_001145861.1:c.2926G>T NP_001139333.1:p.Val976Phe
NM_015029.2:c.2926G>T NP_055844.2:p.Val976Phe
NM_001145860.2:c.2926G>T MANE Select NP_001139332.1:p.Val976Phe
NM_001145861.2:c.2926G>T NP_001139333.1:p.Val976Phe
NM_015029.3:c.2926G>T NP_055844.2:p.Val976Phe
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