Canonical Allele Identifier: CA462457718
Gene: POP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1923258
ClinVar RCV Id: RCV002604490
dbSNP Id: rs1323611346
gnomAD v2: 8-99170424-G-A
gnomAD v3: 8-98158196-G-A
gnomAD v4: 8-98158196-G-A
MyVariant Identifiers: chr8:g.99170424G>A (hg19) chr8:g.98158196G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98158196G>A , CM000670.2:g.98158196G>A GRCh38
NC_000008.10:g.99170424G>A , CM000670.1:g.99170424G>A GRCh37
NC_000008.9:g.99239600G>A NCBI36
NG_052869.1:g.45904G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401707.7:c.3000G>A MANE Select ENSP00000385787.2:p.Ala1000=
ENST00000349693.3:c.3000G>A ENSP00000339529.3:p.Ala1000=
ENST00000401707.6:c.3000G>A ENSP00000385787.2:p.Ala1000=
NM_001145860.1:c.3000G>A NP_001139332.1:p.Ala1000=
NM_001145861.1:c.3000G>A NP_001139333.1:p.Ala1000=
NM_015029.2:c.3000G>A NP_055844.2:p.Ala1000=
NM_001145860.2:c.3000G>A MANE Select NP_001139332.1:p.Ala1000=
NM_001145861.2:c.3000G>A NP_001139333.1:p.Ala1000=
NM_015029.3:c.3000G>A NP_055844.2:p.Ala1000=
Search 100 bp 5'
Search 100 bp 3'