Canonical Allele Identifier: CA406974505

Gene: POLD1

Linked Data

• ClinVar Variation Id: 1478333
• ClinVar RCV Id: RCV002018982
• dbSNP Id: rs1568620331
• MyVariant Identifiers: chr19:g.50905593T>C (hg19) ; chr19:g.50402336T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50402336T>C , CM000681.2:g.50402336T>C	GRCh38
NC_000019.9:g.50905593T>C , CM000681.1:g.50905593T>C	GRCh37
NC_000019.8:g.55597405T>C	NCBI36
NG_033800.1:g.23014T>C , LRG_785:g.23014T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000593887.2:c.721T>C	ENSP00000472607.2:p.Phe241Leu
ENST00000600746.2:n.912T>C
ENST00000644560.2:c.721T>C	ENSP00000495618.2:p.Phe241Leu
ENST00000687454.1:c.721T>C	ENSP00000510052.1:p.Phe241Leu
ENST00000440232.7:c.721T>C MANE Select	ENSP00000406046.1:p.Phe241Leu
ENST00000595904.6:c.721T>C	ENSP00000472445.1:p.Phe241Leu
ENST00000599857.7:c.721T>C	ENSP00000473052.1:p.Phe241Leu
ENST00000601098.6:c.721T>C	ENSP00000472600.2:p.Phe241Leu
ENST00000613923.6:c.721T>C	ENSP00000481858.2:p.Phe241Leu
ENST00000643407.1:c.721T>C	ENSP00000496078.1:p.Phe241Leu
ENST00000440232.6:c.721T>C	ENSP00000406046.1:p.Phe241Leu
ENST00000595904.5:c.721T>C	ENSP00000472445.1:p.Phe241Leu
ENST00000599857.5:c.721T>C	ENSP00000473052.1:p.Phe241Leu
ENST00000600746.1:n.826T>C
ENST00000600859.5:c.721T>C	ENSP00000470726.1:p.Phe241Leu
ENST00000613923.4:c.721T>C	ENSP00000481858.1:p.Phe241Leu
NM_001256849.1:c.721T>C , LRG_785t1:c.721T>C	NP_001243778.1:p.Phe241Leu
NM_001308632.1:c.721T>C , LRG_785t2:c.721T>C	NP_001295561.1:p.Phe241Leu
NM_002691.3:c.721T>C	NP_002682.2:p.Phe241Leu
NR_046402.1:n.790T>C
XM_005259008.3:c.721T>C	XP_005259065.1:p.Phe241Leu
XM_011527038.1:c.721T>C	XP_011525340.1:p.Phe241Leu
XM_011527039.1:c.721T>C	XP_011525341.1:p.Phe241Leu
XR_935835.1:n.823T>C
XM_005259008.4:c.721T>C	XP_005259065.1:p.Phe241Leu
XM_017026881.1:c.721T>C	XP_016882370.1:p.Phe241Leu
XM_017026882.2:c.721T>C	XP_016882371.1:p.Phe241Leu
XR_935835.2:n.822T>C
NM_002691.4:c.721T>C MANE Select	NP_002682.2:p.Phe241Leu
NR_046402.2:n.766T>C