Canonical Allele Identifier: CA4820895
Gene: POP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3216772
ClinVar RCV Id: RCV004514635
dbSNP Id: rs138301299
ExAC: 8:99170131 C / G
gnomAD v2: 8-99170131-C-G
gnomAD v3: 8-98157903-C-G
gnomAD v4: 8-98157903-C-G
MyVariant Identifiers: chr8:g.99170131C>G (hg19) chr8:g.98157903C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98157903C>G , CM000670.2:g.98157903C>G GRCh38
NC_000008.10:g.99170131C>G , CM000670.1:g.99170131C>G GRCh37
NC_000008.9:g.99239307C>G NCBI36
NG_052869.1:g.45611C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000401707.7:c.2707C>G MANE Select ENSP00000385787.2:p.Pro903Ala
ENST00000349693.3:c.2707C>G ENSP00000339529.3:p.Pro903Ala
ENST00000401707.6:c.2707C>G ENSP00000385787.2:p.Pro903Ala
NM_001145860.1:c.2707C>G NP_001139332.1:p.Pro903Ala
NM_001145861.1:c.2707C>G NP_001139333.1:p.Pro903Ala
NM_015029.2:c.2707C>G NP_055844.2:p.Pro903Ala
NM_001145860.2:c.2707C>G MANE Select NP_001139332.1:p.Pro903Ala
NM_001145861.2:c.2707C>G NP_001139333.1:p.Pro903Ala
NM_015029.3:c.2707C>G NP_055844.2:p.Pro903Ala
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