Canonical Allele Identifier: CA462457433
Gene: POP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.99170340T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98158112T>C , CM000670.2:g.98158112T>C GRCh38
NC_000008.10:g.99170340T>C , CM000670.1:g.99170340T>C GRCh37
NC_000008.9:g.99239516T>C NCBI36
NG_052869.1:g.45820T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000401707.7:c.2916T>C MANE Select ENSP00000385787.2:p.Phe972=
ENST00000349693.3:c.2916T>C ENSP00000339529.3:p.Phe972=
ENST00000401707.6:c.2916T>C ENSP00000385787.2:p.Phe972=
NM_001145860.1:c.2916T>C NP_001139332.1:p.Phe972=
NM_001145861.1:c.2916T>C NP_001139333.1:p.Phe972=
NM_015029.2:c.2916T>C NP_055844.2:p.Phe972=
NM_001145860.2:c.2916T>C MANE Select NP_001139332.1:p.Phe972=
NM_001145861.2:c.2916T>C NP_001139333.1:p.Phe972=
NM_015029.3:c.2916T>C NP_055844.2:p.Phe972=