Canonical Allele Identifier: CA4820683

Gene: POP1

Linked Data

• dbSNP Id: rs756912872
• ExAC: 8:99161010 C / G
• gnomAD v2: 8-99161010-C-G
• gnomAD v4: 8-98148782-C-G
• MyVariant Identifiers: chr8:g.99161010C>G (hg19) ; chr8:g.98148782C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98148782C>G , CM000670.2:g.98148782C>G	GRCh38
NC_000008.10:g.99161010C>G , CM000670.1:g.99161010C>G	GRCh37
NC_000008.9:g.99230186C>G	NCBI36
NG_052869.1:g.36490C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000401707.7:c.1711-33C>G MANE Select	ENSP00000385787.2:n.1711-33C>G
ENST00000349693.3:c.1711-33C>G	ENSP00000339529.3:n.1711-33C>G
ENST00000401707.6:c.1711-33C>G	ENSP00000385787.2:n.1711-33C>G
NM_001145860.1:c.1711-33C>G	NP_001139332.1:n.1711-33C>G
NM_001145861.1:c.1711-33C>G	NP_001139333.1:n.1711-33C>G
NM_015029.2:c.1711-33C>G	NP_055844.2:n.1711-33C>G
XM_011516800.1:c.1711-33C>G	XP_011515102.1:n.1711-33C>G
NM_001145860.2:c.1711-33C>G MANE Select	NP_001139332.1:n.1711-33C>G
NM_001145861.2:c.1711-33C>G	NP_001139333.1:n.1711-33C>G
NM_015029.3:c.1711-33C>G	NP_055844.2:n.1711-33C>G