Canonical Allele Identifier: CA371777685
Gene: POP1 HGNC NCBI

Linked Data

gnomAD v4: 8-98158099-C-A
MyVariant Identifiers: chr8:g.99170327C>A (hg19) chr8:g.98158099C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98158099C>A , CM000670.2:g.98158099C>A GRCh38
NC_000008.10:g.99170327C>A , CM000670.1:g.99170327C>A GRCh37
NC_000008.9:g.99239503C>A NCBI36
NG_052869.1:g.45807C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401707.7:c.2903C>A MANE Select ENSP00000385787.2:p.Thr968Asn
ENST00000349693.3:c.2903C>A ENSP00000339529.3:p.Thr968Asn
ENST00000401707.6:c.2903C>A ENSP00000385787.2:p.Thr968Asn
NM_001145860.1:c.2903C>A NP_001139332.1:p.Thr968Asn
NM_001145861.1:c.2903C>A NP_001139333.1:p.Thr968Asn
NM_015029.2:c.2903C>A NP_055844.2:p.Thr968Asn
NM_001145860.2:c.2903C>A MANE Select NP_001139332.1:p.Thr968Asn
NM_001145861.2:c.2903C>A NP_001139333.1:p.Thr968Asn
NM_015029.3:c.2903C>A NP_055844.2:p.Thr968Asn
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