Canonical Allele Identifier: CA16616179

Gene: POLD1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50416610G>C , CM000681.2:g.50416610G>C	GRCh38
NC_000019.9:g.50919867G>C , CM000681.1:g.50919867G>C	GRCh37
NC_000019.8:g.55611679G>C	NCBI36
NG_033800.1:g.37288G>C , LRG_785:g.37288G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593887.2:c.2954G>C	ENSP00000472607.2:p.Arg985Pro
ENST00000600746.2:n.3145G>C
ENST00000644560.2:c.2960G>C	ENSP00000495618.2:p.Arg987Pro
ENST00000687454.1:c.2954G>C	ENSP00000510052.1:p.Arg985Pro
ENST00000440232.7:c.2954G>C MANE Select	ENSP00000406046.1:p.Arg985Pro
ENST00000595904.6:c.3032G>C	ENSP00000472445.1:p.Arg1011Pro
ENST00000599857.7:c.2954G>C	ENSP00000473052.1:p.Arg985Pro
ENST00000601098.6:c.2954G>C	ENSP00000472600.2:p.Arg985Pro
ENST00000613923.6:c.2882G>C	ENSP00000481858.2:p.Arg961Pro
ENST00000643407.1:c.*710G>C	ENSP00000496078.1:n.*710G>C
ENST00000440232.6:c.2954G>C	ENSP00000406046.1:p.Arg985Pro
ENST00000593407.5:c.735G>C
ENST00000593981.1:c.580G>C
ENST00000595904.5:c.3032G>C	ENSP00000472445.1:p.Arg1011Pro
ENST00000596648.1:n.888G>C
ENST00000597963.5:n.298G>C
ENST00000599632.1:c.162G>C
ENST00000599857.5:c.2954G>C	ENSP00000473052.1:p.Arg985Pro
ENST00000600859.5:c.2851G>C	ENSP00000470726.1:p.Gly951Arg
ENST00000613923.4:c.3032G>C	ENSP00000481858.1:p.Arg1011Pro
NM_001256849.1:c.2954G>C , LRG_785t1:c.2954G>C	NP_001243778.1:p.Arg985Pro
NM_001308632.1:c.3032G>C , LRG_785t2:c.3032G>C	NP_001295561.1:p.Arg1011Pro
NM_002691.3:c.2954G>C	NP_002682.2:p.Arg985Pro
NR_046402.1:n.2920G>C
XM_005259008.3:c.2882G>C	XP_005259065.1:p.Arg961Pro
XM_011527038.1:c.2954G>C	XP_011525340.1:p.Arg985Pro
XM_011527039.1:c.2954G>C	XP_011525341.1:p.Arg985Pro
XM_005259008.4:c.2882G>C	XP_005259065.1:p.Arg961Pro
XM_017026881.1:c.2954G>C	XP_016882370.1:p.Arg985Pro
XM_017026882.2:c.2882G>C	XP_016882371.1:p.Arg961Pro
NM_002691.4:c.2954G>C MANE Select	NP_002682.2:p.Arg985Pro
NR_046402.2:n.2896G>C