Canonical Allele Identifier: CA4820867
Gene: POP1 HGNC NCBI

Linked Data

dbSNP Id: rs112467847
gnomAD v2: 8-99169944-G-C
gnomAD v3: 8-98157716-G-C
gnomAD v4: 8-98157716-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98157716G>C , CM000670.2:g.98157716G>C GRCh38
NC_000008.10:g.99169944G>C , CM000670.1:g.99169944G>C GRCh37
NC_000008.9:g.99239120G>C NCBI36
NG_052869.1:g.45424G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000401707.7:c.2520G>C MANE Select ENSP00000385787.2:p.Leu840Phe
ENST00000349693.3:c.2520G>C ENSP00000339529.3:p.Leu840Phe
ENST00000401707.6:c.2520G>C ENSP00000385787.2:p.Leu840Phe
NM_001145860.1:c.2520G>C NP_001139332.1:p.Leu840Phe
NM_001145861.1:c.2520G>C NP_001139333.1:p.Leu840Phe
NM_015029.2:c.2520G>C NP_055844.2:p.Leu840Phe
NM_001145860.2:c.2520G>C MANE Select NP_001139332.1:p.Leu840Phe
NM_001145861.2:c.2520G>C NP_001139333.1:p.Leu840Phe
NM_015029.3:c.2520G>C NP_055844.2:p.Leu840Phe