Canonical Allele Identifier: CA406977162

Gene: POLD1

Linked Data

• ClinVar Variation Id: 1002952
• ClinVar RCV Id: RCV001299447
• dbSNP Id: rs2038702963
• gnomAD v4: 19-50402692-T-G
• MyVariant Identifiers: chr19:g.50905949T>G (hg19) ; chr19:g.50402692T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50402692T>G , CM000681.2:g.50402692T>G	GRCh38
NC_000019.9:g.50905949T>G , CM000681.1:g.50905949T>G	GRCh37
NC_000019.8:g.55597761T>G	NCBI36
NG_033800.1:g.23370T>G , LRG_785:g.23370T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593887.2:c.921T>G	ENSP00000472607.2:p.Ile307Met
ENST00000600746.2:n.1112T>G
ENST00000644560.2:c.921T>G	ENSP00000495618.2:p.Ile307Met
ENST00000687454.1:c.921T>G	ENSP00000510052.1:p.Ile307Met
ENST00000440232.7:c.921T>G MANE Select	ENSP00000406046.1:p.Ile307Met
ENST00000595904.6:c.921T>G	ENSP00000472445.1:p.Ile307Met
ENST00000599857.7:c.921T>G	ENSP00000473052.1:p.Ile307Met
ENST00000601098.6:c.921T>G	ENSP00000472600.2:p.Ile307Met
ENST00000613923.6:c.921T>G	ENSP00000481858.2:p.Ile307Met
ENST00000643407.1:c.921T>G	ENSP00000496078.1:p.Ile307Met
ENST00000440232.6:c.921T>G	ENSP00000406046.1:p.Ile307Met
ENST00000595904.5:c.921T>G	ENSP00000472445.1:p.Ile307Met
ENST00000599857.5:c.921T>G	ENSP00000473052.1:p.Ile307Met
ENST00000600859.5:c.921T>G	ENSP00000470726.1:p.Ile307Met
ENST00000613923.4:c.921T>G	ENSP00000481858.1:p.Ile307Met
NM_001256849.1:c.921T>G , LRG_785t1:c.921T>G	NP_001243778.1:p.Ile307Met
NM_001308632.1:c.921T>G , LRG_785t2:c.921T>G	NP_001295561.1:p.Ile307Met
NM_002691.3:c.921T>G	NP_002682.2:p.Ile307Met
NR_046402.1:n.990T>G
XM_005259008.3:c.921T>G	XP_005259065.1:p.Ile307Met
XM_011527038.1:c.921T>G	XP_011525340.1:p.Ile307Met
XM_011527039.1:c.921T>G	XP_011525341.1:p.Ile307Met
XR_935835.1:n.1023T>G
XM_005259008.4:c.921T>G	XP_005259065.1:p.Ile307Met
XM_017026881.1:c.921T>G	XP_016882370.1:p.Ile307Met
XM_017026882.2:c.921T>G	XP_016882371.1:p.Ile307Met
XR_935835.2:n.1022T>G
NM_002691.4:c.921T>G MANE Select	NP_002682.2:p.Ile307Met
NR_046402.2:n.966T>G