Canonical Allele Identifier: CA4820941
Gene: POP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1601048
ClinVar RCV Id: RCV002136747 RCV003978729
dbSNP Id: rs17856355
ExAC: 8:99170404 C / G
gnomAD v2: 8-99170404-C-G
gnomAD v3: 8-98158176-C-G
gnomAD v4: 8-98158176-C-G
MyVariant Identifiers: chr8:g.99170404C>G (hg19) chr8:g.98158176C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98158176C>G , CM000670.2:g.98158176C>G GRCh38
NC_000008.10:g.99170404C>G , CM000670.1:g.99170404C>G GRCh37
NC_000008.9:g.99239580C>G NCBI36
NG_052869.1:g.45884C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000401707.7:c.2980C>G MANE Select ENSP00000385787.2:p.Leu994Val
ENST00000349693.3:c.2980C>G ENSP00000339529.3:p.Leu994Val
ENST00000401707.6:c.2980C>G ENSP00000385787.2:p.Leu994Val
NM_001145860.1:c.2980C>G NP_001139332.1:p.Leu994Val
NM_001145861.1:c.2980C>G NP_001139333.1:p.Leu994Val
NM_015029.2:c.2980C>G NP_055844.2:p.Leu994Val
NM_001145860.2:c.2980C>G MANE Select NP_001139332.1:p.Leu994Val
NM_001145861.2:c.2980C>G NP_001139333.1:p.Leu994Val
NM_015029.3:c.2980C>G NP_055844.2:p.Leu994Val
Search 100 bp 5'
Search 100 bp 3'