Canonical Allele Identifier: CA182297505

Gene: POP1

Linked Data

• dbSNP Id: rs1034153330
• gnomAD v3: 8-98148595-T-C
• gnomAD v4: 8-98148595-T-C
• MyVariant Identifiers: chr8:g.99160823T>C (hg19) ; chr8:g.98148595T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98148595T>C , CM000670.2:g.98148595T>C	GRCh38
NC_000008.10:g.99160823T>C , CM000670.1:g.99160823T>C	GRCh37
NC_000008.9:g.99229999T>C	NCBI36
NG_052869.1:g.36303T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401707.7:c.1711-220T>C MANE Select	ENSP00000385787.2:n.1711-220T>C
ENST00000349693.3:c.1711-220T>C	ENSP00000339529.3:n.1711-220T>C
ENST00000401707.6:c.1711-220T>C	ENSP00000385787.2:n.1711-220T>C
NM_001145860.1:c.1711-220T>C	NP_001139332.1:n.1711-220T>C
NM_001145861.1:c.1711-220T>C	NP_001139333.1:n.1711-220T>C
NM_015029.2:c.1711-220T>C	NP_055844.2:n.1711-220T>C
XM_011516800.1:c.1711-220T>C	XP_011515102.1:n.1711-220T>C
NM_001145860.2:c.1711-220T>C MANE Select	NP_001139332.1:n.1711-220T>C
NM_001145861.2:c.1711-220T>C	NP_001139333.1:n.1711-220T>C
NM_015029.3:c.1711-220T>C	NP_055844.2:n.1711-220T>C