Canonical Allele Identifier: CA2576863011
Community Standard Title: NM_002691.4(POLD1):c.2717+7C>G
Gene: POLD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50415597C>G , CM000681.2:g.50415597C>G GRCh38
NC_000019.9:g.50918854C>G , CM000681.1:g.50918854C>G GRCh37
NC_000019.8:g.55610666C>G NCBI36
NG_033800.1:g.36275C>G , LRG_785:g.36275C>G

Transcript Alleles

HGVS Amino-acid Change
NM_002691.4:c.2717+7C>G MANE Select NP_002682.2:n.2717+7C>G
ENST00000440232.7:c.2717+7C>G MANE Select ENSP00000406046.1:n.2717+7C>G
NM_001256849.1:c.2717+7C>G , LRG_785t1:c.2717+7C>G NP_001243778.1:n.2717+7C>G
NM_001308632.1:c.2795+7C>G , LRG_785t2:c.2795+7C>G NP_001295561.1:n.2795+7C>G
NM_002691.3:c.2717+7C>G NP_002682.2:n.2717+7C>G
NR_046402.1:n.2786+7C>G
NR_046402.2:n.2762+7C>G
ENST00000440232.6:c.2717+7C>G ENSP00000406046.1:n.2717+7C>G
ENST00000593407.5:c.493C>G
ENST00000593887.2:c.2717+7C>G ENSP00000472607.2:n.2717+7C>G
ENST00000593981.1:c.343+7C>G
ENST00000595904.5:c.2795+7C>G ENSP00000472445.1:n.2795+7C>G
ENST00000595904.6:c.2795+7C>G ENSP00000472445.1:n.2795+7C>G
ENST00000596648.1:n.82+7C>G
ENST00000599857.5:c.2717+7C>G ENSP00000473052.1:n.2717+7C>G
ENST00000599857.7:c.2717+7C>G ENSP00000473052.1:n.2717+7C>G
ENST00000600746.2:n.2908+7C>G
ENST00000600859.5:c.2717+7C>G ENSP00000470726.1:n.2717+7C>G
ENST00000601098.6:c.2717+7C>G ENSP00000472600.2:n.2717+7C>G
ENST00000613923.4:c.2795+7C>G ENSP00000481858.1:n.2795+7C>G
ENST00000613923.6:c.2645+7C>G ENSP00000481858.2:n.2645+7C>G
ENST00000643407.1:c.*473+38C>G ENSP00000496078.1:n.*473+38C>G
ENST00000644560.2:c.2723+7C>G ENSP00000495618.2:n.2723+7C>G
ENST00000687454.1:c.2717+7C>G ENSP00000510052.1:n.2717+7C>G
XM_005259008.3:c.2645+7C>G XP_005259065.1:n.2645+7C>G
XM_005259008.4:c.2645+7C>G XP_005259065.1:n.2645+7C>G
XM_011527038.1:c.2717+7C>G XP_011525340.1:n.2717+7C>G
XM_011527039.1:c.2717+7C>G XP_011525341.1:n.2717+7C>G
XM_017026881.1:c.2717+7C>G XP_016882370.1:n.2717+7C>G
XM_017026882.2:c.2645+7C>G XP_016882371.1:n.2645+7C>G