Canonical Allele Identifier: CA4820860
Gene: POP1 HGNC NCBI

Linked Data

dbSNP Id: rs111665863
ExAC: 8:99169923 C / A
gnomAD v2: 8-99169923-C-A
gnomAD v3: 8-98157695-C-A
gnomAD v4: 8-98157695-C-A
MyVariant Identifiers: chr8:g.99169923C>A (hg19) chr8:g.98157695C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98157695C>A , CM000670.2:g.98157695C>A GRCh38
NC_000008.10:g.99169923C>A , CM000670.1:g.99169923C>A GRCh37
NC_000008.9:g.99239099C>A NCBI36
NG_052869.1:g.45403C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401707.7:c.2499C>A MANE Select ENSP00000385787.2:p.Pro833=
ENST00000349693.3:c.2499C>A ENSP00000339529.3:p.Pro833=
ENST00000401707.6:c.2499C>A ENSP00000385787.2:p.Pro833=
NM_001145860.1:c.2499C>A NP_001139332.1:p.Pro833=
NM_001145861.1:c.2499C>A NP_001139333.1:p.Pro833=
NM_015029.2:c.2499C>A NP_055844.2:p.Pro833=
NM_001145860.2:c.2499C>A MANE Select NP_001139332.1:p.Pro833=
NM_001145861.2:c.2499C>A NP_001139333.1:p.Pro833=
NM_015029.3:c.2499C>A NP_055844.2:p.Pro833=
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