Canonical Allele Identifier: CA182302866

Gene: POP1

Linked Data

• ClinVar Variation Id: 2176229
• ClinVar RCV Id: RCV002582282
• dbSNP Id: rs181081798
• gnomAD v3: 8-98157611-A-G
• gnomAD v4: 8-98157611-A-G
• MyVariant Identifiers: chr8:g.99169839A>G (hg19) ; chr8:g.98157611A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98157611A>G , CM000670.2:g.98157611A>G	GRCh38
NC_000008.10:g.99169839A>G , CM000670.1:g.99169839A>G	GRCh37
NC_000008.9:g.99239015A>G	NCBI36
NG_052869.1:g.45319A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000401707.7:c.2421-6A>G MANE Select	ENSP00000385787.2:n.2421-6A>G
ENST00000349693.3:c.2421-6A>G	ENSP00000339529.3:n.2421-6A>G
ENST00000401707.6:c.2421-6A>G	ENSP00000385787.2:n.2421-6A>G
ENST00000517435.1:n.456-6A>G
NM_001145860.1:c.2421-6A>G	NP_001139332.1:n.2421-6A>G
NM_001145861.1:c.2421-6A>G	NP_001139333.1:n.2421-6A>G
NM_015029.2:c.2421-6A>G	NP_055844.2:n.2421-6A>G
NM_001145860.2:c.2421-6A>G MANE Select	NP_001139332.1:n.2421-6A>G
NM_001145861.2:c.2421-6A>G	NP_001139333.1:n.2421-6A>G
NM_015029.3:c.2421-6A>G	NP_055844.2:n.2421-6A>G