Canonical Allele Identifier: CA371778735

Gene: POP1

Linked Data

• ClinVar Variation Id: 1375482
• ClinVar RCV Id: RCV001902451
• dbSNP Id: rs1809709945
• MyVariant Identifiers: chr8:g.99170452C>G (hg19) ; chr8:g.98158224C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98158224C>G , CM000670.2:g.98158224C>G	GRCh38
NC_000008.10:g.99170452C>G , CM000670.1:g.99170452C>G	GRCh37
NC_000008.9:g.99239628C>G	NCBI36
NG_052869.1:g.45932C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401707.7:c.3028C>G MANE Select	ENSP00000385787.2:p.Pro1010Ala
ENST00000349693.3:c.3028C>G	ENSP00000339529.3:p.Pro1010Ala
ENST00000401707.6:c.3028C>G	ENSP00000385787.2:p.Pro1010Ala
NM_001145860.1:c.3028C>G	NP_001139332.1:p.Pro1010Ala
NM_001145861.1:c.3028C>G	NP_001139333.1:p.Pro1010Ala
NM_015029.2:c.3028C>G	NP_055844.2:p.Pro1010Ala
NM_001145860.2:c.3028C>G MANE Select	NP_001139332.1:p.Pro1010Ala
NM_001145861.2:c.3028C>G	NP_001139333.1:p.Pro1010Ala
NM_015029.3:c.3028C>G	NP_055844.2:p.Pro1010Ala