Canonical Allele Identifier: CA350683

Gene: POLD1

Linked Data

• ClinVar Variation Id: 221038
• ClinVar RCV Id: RCV000206687 ; RCV000210771 ; RCV000679493 ; RCV001269368 ; RCV000217194 ; RCV004529002
• dbSNP Id: rs145473716
• ExAC: 19:50917023 G / A
• gnomAD v2: 19-50917023-G-A
• gnomAD v3: 19-50413766-G-A
• gnomAD v4: 19-50413766-G-A
• COSMIC: COSM3692994 ; COSM3692995
• MyVariant Identifiers: chr19:g.50917023G>A (hg19) ; chr19:g.50413766G>A (hg38)
• PubMed: PMID:23376243 ; PMID:24123366 ; PMID:25986922 ; PMID:27153395 ; PMID:27535533

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50413766G>A , CM000681.2:g.50413766G>A	GRCh38
NC_000019.9:g.50917023G>A , CM000681.1:g.50917023G>A	GRCh37
NC_000019.8:g.55608835G>A	NCBI36
NG_033800.1:g.34444G>A , LRG_785:g.34444G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593887.2:c.2275G>A	ENSP00000472607.2:p.Val759Ile
ENST00000600746.2:n.2466G>A
ENST00000644560.2:c.2281G>A	ENSP00000495618.2:p.Val761Ile
ENST00000687454.1:c.2275G>A	ENSP00000510052.1:p.Val759Ile
ENST00000440232.7:c.2275G>A MANE Select	ENSP00000406046.1:p.Val759Ile
ENST00000595904.6:c.2353G>A	ENSP00000472445.1:p.Val785Ile
ENST00000599857.7:c.2275G>A	ENSP00000473052.1:p.Val759Ile
ENST00000601098.6:c.2275G>A	ENSP00000472600.2:p.Val759Ile
ENST00000613923.6:c.2203G>A	ENSP00000481858.2:p.Val735Ile
ENST00000643407.1:c.*62G>A	ENSP00000496078.1:n.*62G>A
ENST00000644560.1:c.1152G>A
ENST00000440232.6:c.2275G>A	ENSP00000406046.1:p.Val759Ile
ENST00000593407.5:c.44G>A
ENST00000595904.5:c.2353G>A	ENSP00000472445.1:p.Val785Ile
ENST00000599857.5:c.2275G>A	ENSP00000473052.1:p.Val759Ile
ENST00000600859.5:c.2275G>A	ENSP00000470726.1:p.Val759Ile
ENST00000613923.4:c.2353G>A	ENSP00000481858.1:p.Val785Ile
NM_001256849.1:c.2275G>A , LRG_785t1:c.2275G>A	NP_001243778.1:p.Val759Ile
NM_001308632.1:c.2353G>A , LRG_785t2:c.2353G>A	NP_001295561.1:p.Val785Ile
NM_002691.3:c.2275G>A	NP_002682.2:p.Val759Ile
NR_046402.1:n.2344G>A
XM_005259008.3:c.2203G>A	XP_005259065.1:p.Val735Ile
XM_011527038.1:c.2275G>A	XP_011525340.1:p.Val759Ile
XM_011527039.1:c.2275G>A	XP_011525341.1:p.Val759Ile
XM_005259008.4:c.2203G>A	XP_005259065.1:p.Val735Ile
XM_017026881.1:c.2275G>A	XP_016882370.1:p.Val759Ile
XM_017026882.2:c.2203G>A	XP_016882371.1:p.Val735Ile
NM_002691.4:c.2275G>A MANE Select	NP_002682.2:p.Val759Ile
NR_046402.2:n.2320G>A