Canonical Allele Identifier: CA4820862
Gene: POP1 HGNC NCBI

Linked Data

dbSNP Id: rs141598143
gnomAD v2: 8-99169928-G-A
gnomAD v3: 8-98157700-G-A
gnomAD v4: 8-98157700-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98157700G>A , CM000670.2:g.98157700G>A GRCh38
NC_000008.10:g.99169928G>A , CM000670.1:g.99169928G>A GRCh37
NC_000008.9:g.99239104G>A NCBI36
NG_052869.1:g.45408G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401707.7:c.2504G>A MANE Select ENSP00000385787.2:p.Arg835Lys
ENST00000349693.3:c.2504G>A ENSP00000339529.3:p.Arg835Lys
ENST00000401707.6:c.2504G>A ENSP00000385787.2:p.Arg835Lys
NM_001145860.1:c.2504G>A NP_001139332.1:p.Arg835Lys
NM_001145861.1:c.2504G>A NP_001139333.1:p.Arg835Lys
NM_015029.2:c.2504G>A NP_055844.2:p.Arg835Lys
NM_001145860.2:c.2504G>A MANE Select NP_001139332.1:p.Arg835Lys
NM_001145861.2:c.2504G>A NP_001139333.1:p.Arg835Lys
NM_015029.3:c.2504G>A NP_055844.2:p.Arg835Lys