Canonical Allele Identifier: CA406974501

Gene: POLD1

Linked Data

• ClinVar Variation Id: 661545
• ClinVar RCV Id: RCV002372328
• dbSNP Id: rs1601201039
• gnomAD v4: 19-50402335-C-G
• MyVariant Identifiers: chr19:g.50905592C>G (hg19) ; chr19:g.50402335C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50402335C>G , CM000681.2:g.50402335C>G	GRCh38
NC_000019.9:g.50905592C>G , CM000681.1:g.50905592C>G	GRCh37
NC_000019.8:g.55597404C>G	NCBI36
NG_033800.1:g.23013C>G , LRG_785:g.23013C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000593887.2:c.720C>G	ENSP00000472607.2:p.Ser240Arg
ENST00000600746.2:n.911C>G
ENST00000644560.2:c.720C>G	ENSP00000495618.2:p.Ser240Arg
ENST00000687454.1:c.720C>G	ENSP00000510052.1:p.Ser240Arg
ENST00000440232.7:c.720C>G MANE Select	ENSP00000406046.1:p.Ser240Arg
ENST00000595904.6:c.720C>G	ENSP00000472445.1:p.Ser240Arg
ENST00000599857.7:c.720C>G	ENSP00000473052.1:p.Ser240Arg
ENST00000601098.6:c.720C>G	ENSP00000472600.2:p.Ser240Arg
ENST00000613923.6:c.720C>G	ENSP00000481858.2:p.Ser240Arg
ENST00000643407.1:c.720C>G	ENSP00000496078.1:p.Ser240Arg
ENST00000440232.6:c.720C>G	ENSP00000406046.1:p.Ser240Arg
ENST00000595904.5:c.720C>G	ENSP00000472445.1:p.Ser240Arg
ENST00000599857.5:c.720C>G	ENSP00000473052.1:p.Ser240Arg
ENST00000600746.1:n.825C>G
ENST00000600859.5:c.720C>G	ENSP00000470726.1:p.Ser240Arg
ENST00000613923.4:c.720C>G	ENSP00000481858.1:p.Ser240Arg
NM_001256849.1:c.720C>G , LRG_785t1:c.720C>G	NP_001243778.1:p.Ser240Arg
NM_001308632.1:c.720C>G , LRG_785t2:c.720C>G	NP_001295561.1:p.Ser240Arg
NM_002691.3:c.720C>G	NP_002682.2:p.Ser240Arg
NR_046402.1:n.789C>G
XM_005259008.3:c.720C>G	XP_005259065.1:p.Ser240Arg
XM_011527038.1:c.720C>G	XP_011525340.1:p.Ser240Arg
XM_011527039.1:c.720C>G	XP_011525341.1:p.Ser240Arg
XR_935835.1:n.822C>G
XM_005259008.4:c.720C>G	XP_005259065.1:p.Ser240Arg
XM_017026881.1:c.720C>G	XP_016882370.1:p.Ser240Arg
XM_017026882.2:c.720C>G	XP_016882371.1:p.Ser240Arg
XR_935835.2:n.821C>G
NM_002691.4:c.720C>G MANE Select	NP_002682.2:p.Ser240Arg
NR_046402.2:n.765C>G