Canonical Allele Identifier: CA16616855
Gene: POP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 417736
ClinVar RCV Id: RCV000477695
dbSNP Id: rs1060505023
MyVariant Identifiers: chr8:g.99161076C>T (hg19) chr8:g.98148848C>T (hg38)
PubMed: PMID:27380734 PMID:28067412
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98148848C>T , CM000670.2:g.98148848C>T GRCh38
NC_000008.10:g.99161076C>T , CM000670.1:g.99161076C>T GRCh37
NC_000008.9:g.99230252C>T NCBI36
NG_052869.1:g.36556C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000401707.7:c.1744C>T MANE Select ENSP00000385787.2:p.Pro582Ser
ENST00000349693.3:c.1744C>T ENSP00000339529.3:p.Pro582Ser
ENST00000401707.6:c.1744C>T ENSP00000385787.2:p.Pro582Ser
NM_001145860.1:c.1744C>T NP_001139332.1:p.Pro582Ser
NM_001145861.1:c.1744C>T NP_001139333.1:p.Pro582Ser
NM_015029.2:c.1744C>T NP_055844.2:p.Pro582Ser
XM_011516800.1:c.1744C>T XP_011515102.1:p.Pro582Ser
NM_001145860.2:c.1744C>T MANE Select NP_001139332.1:p.Pro582Ser
NM_001145861.2:c.1744C>T NP_001139333.1:p.Pro582Ser
NM_015029.3:c.1744C>T NP_055844.2:p.Pro582Ser
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