Canonical Allele Identifier: CA4820890
Gene: POP1 HGNC NCBI

Linked Data

dbSNP Id: rs775547789
gnomAD v2: 8-99170108-C-A
gnomAD v4: 8-98157880-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98157880C>A , CM000670.2:g.98157880C>A GRCh38
NC_000008.10:g.99170108C>A , CM000670.1:g.99170108C>A GRCh37
NC_000008.9:g.99239284C>A NCBI36
NG_052869.1:g.45588C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401707.7:c.2684C>A MANE Select ENSP00000385787.2:p.Pro895His
ENST00000349693.3:c.2684C>A ENSP00000339529.3:p.Pro895His
ENST00000401707.6:c.2684C>A ENSP00000385787.2:p.Pro895His
NM_001145860.1:c.2684C>A NP_001139332.1:p.Pro895His
NM_001145861.1:c.2684C>A NP_001139333.1:p.Pro895His
NM_015029.2:c.2684C>A NP_055844.2:p.Pro895His
NM_001145860.2:c.2684C>A MANE Select NP_001139332.1:p.Pro895His
NM_001145861.2:c.2684C>A NP_001139333.1:p.Pro895His
NM_015029.3:c.2684C>A NP_055844.2:p.Pro895His