Canonical Allele Identifier: CA371776201
Gene: POP1 HGNC NCBI

Linked Data

dbSNP Id: rs1240634113
gnomAD v3: 8-98157889-C-T
gnomAD v4: 8-98157889-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98157889C>T , CM000670.2:g.98157889C>T GRCh38
NC_000008.10:g.99170117C>T , CM000670.1:g.99170117C>T GRCh37
NC_000008.9:g.99239293C>T NCBI36
NG_052869.1:g.45597C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000401707.7:c.2693C>T MANE Select ENSP00000385787.2:p.Ser898Phe
ENST00000349693.3:c.2693C>T ENSP00000339529.3:p.Ser898Phe
ENST00000401707.6:c.2693C>T ENSP00000385787.2:p.Ser898Phe
NM_001145860.1:c.2693C>T NP_001139332.1:p.Ser898Phe
NM_001145861.1:c.2693C>T NP_001139333.1:p.Ser898Phe
NM_015029.2:c.2693C>T NP_055844.2:p.Ser898Phe
NM_001145860.2:c.2693C>T MANE Select NP_001139332.1:p.Ser898Phe
NM_001145861.2:c.2693C>T NP_001139333.1:p.Ser898Phe
NM_015029.3:c.2693C>T NP_055844.2:p.Ser898Phe