Canonical Allele Identifier: CA4820943
Gene: POP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2217702
ClinVar RCV Id: RCV003738304 RCV002670086
dbSNP Id: rs200072075
ExAC: 8:99170423 C / T
gnomAD v2: 8-99170423-C-T
gnomAD v3: 8-98158195-C-T
gnomAD v4: 8-98158195-C-T
COSMIC: COSM3729424
MyVariant Identifiers: chr8:g.99170423C>T (hg19) chr8:g.98158195C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98158195C>T , CM000670.2:g.98158195C>T GRCh38
NC_000008.10:g.99170423C>T , CM000670.1:g.99170423C>T GRCh37
NC_000008.9:g.99239599C>T NCBI36
NG_052869.1:g.45903C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000401707.7:c.2999C>T MANE Select ENSP00000385787.2:p.Ala1000Val
ENST00000349693.3:c.2999C>T ENSP00000339529.3:p.Ala1000Val
ENST00000401707.6:c.2999C>T ENSP00000385787.2:p.Ala1000Val
NM_001145860.1:c.2999C>T NP_001139332.1:p.Ala1000Val
NM_001145861.1:c.2999C>T NP_001139333.1:p.Ala1000Val
NM_015029.2:c.2999C>T NP_055844.2:p.Ala1000Val
NM_001145860.2:c.2999C>T MANE Select NP_001139332.1:p.Ala1000Val
NM_001145861.2:c.2999C>T NP_001139333.1:p.Ala1000Val
NM_015029.3:c.2999C>T NP_055844.2:p.Ala1000Val
Search 100 bp 5'
Search 100 bp 3'