Canonical Allele Identifier: CA371778061
Gene: POP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2527365
ClinVar RCV Id: RCV003253264
dbSNP Id: rs1240373022
gnomAD v2: 8-99170364-A-C
gnomAD v3: 8-98158136-A-C
gnomAD v4: 8-98158136-A-C
MyVariant Identifiers: chr8:g.99170364A>C (hg19) chr8:g.98158136A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98158136A>C , CM000670.2:g.98158136A>C GRCh38
NC_000008.10:g.99170364A>C , CM000670.1:g.99170364A>C GRCh37
NC_000008.9:g.99239540A>C NCBI36
NG_052869.1:g.45844A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000401707.7:c.2940A>C MANE Select ENSP00000385787.2:p.Glu980Asp
ENST00000349693.3:c.2940A>C ENSP00000339529.3:p.Glu980Asp
ENST00000401707.6:c.2940A>C ENSP00000385787.2:p.Glu980Asp
NM_001145860.1:c.2940A>C NP_001139332.1:p.Glu980Asp
NM_001145861.1:c.2940A>C NP_001139333.1:p.Glu980Asp
NM_015029.2:c.2940A>C NP_055844.2:p.Glu980Asp
NM_001145860.2:c.2940A>C MANE Select NP_001139332.1:p.Glu980Asp
NM_001145861.2:c.2940A>C NP_001139333.1:p.Glu980Asp
NM_015029.3:c.2940A>C NP_055844.2:p.Glu980Asp
Search 100 bp 5'
Search 100 bp 3'