Canonical Allele Identifier: CA371775399

Gene: POP1

Linked Data

• gnomAD v4: 8-98157630-C-A
• MyVariant Identifiers: chr8:g.99169858C>A (hg19) ; chr8:g.98157630C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98157630C>A , CM000670.2:g.98157630C>A	GRCh38
NC_000008.10:g.99169858C>A , CM000670.1:g.99169858C>A	GRCh37
NC_000008.9:g.99239034C>A	NCBI36
NG_052869.1:g.45338C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401707.7:c.2434C>A MANE Select	ENSP00000385787.2:p.Leu812Met
ENST00000349693.3:c.2434C>A	ENSP00000339529.3:p.Leu812Met
ENST00000401707.6:c.2434C>A	ENSP00000385787.2:p.Leu812Met
ENST00000517435.1:n.469C>A
NM_001145860.1:c.2434C>A	NP_001139332.1:p.Leu812Met
NM_001145861.1:c.2434C>A	NP_001139333.1:p.Leu812Met
NM_015029.2:c.2434C>A	NP_055844.2:p.Leu812Met
NM_001145860.2:c.2434C>A MANE Select	NP_001139332.1:p.Leu812Met
NM_001145861.2:c.2434C>A	NP_001139333.1:p.Leu812Met
NM_015029.3:c.2434C>A	NP_055844.2:p.Leu812Met