Canonical Allele Identifier: CA371775374

Gene: POP1

Linked Data

• dbSNP Id: rs777361830
• gnomAD v2: 8-99169847-G-T
• MyVariant Identifiers: chr8:g.99169847G>T (hg19) ; chr8:g.98157619G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98157619G>T , CM000670.2:g.98157619G>T	GRCh38
NC_000008.10:g.99169847G>T , CM000670.1:g.99169847G>T	GRCh37
NC_000008.9:g.99239023G>T	NCBI36
NG_052869.1:g.45327G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000401707.7:c.2423G>T MANE Select	ENSP00000385787.2:p.Ser808Ile
ENST00000349693.3:c.2423G>T	ENSP00000339529.3:p.Ser808Ile
ENST00000401707.6:c.2423G>T	ENSP00000385787.2:p.Ser808Ile
ENST00000517435.1:n.458G>T
NM_001145860.1:c.2423G>T	NP_001139332.1:p.Ser808Ile
NM_001145861.1:c.2423G>T	NP_001139333.1:p.Ser808Ile
NM_015029.2:c.2423G>T	NP_055844.2:p.Ser808Ile
NM_001145860.2:c.2423G>T MANE Select	NP_001139332.1:p.Ser808Ile
NM_001145861.2:c.2423G>T	NP_001139333.1:p.Ser808Ile
NM_015029.3:c.2423G>T	NP_055844.2:p.Ser808Ile