Canonical Allele Identifier: CA9596776

Gene: POLD1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50417208C>T , CM000681.2:g.50417208C>T	GRCh38
NC_000019.9:g.50920465C>T , CM000681.1:g.50920465C>T	GRCh37
NC_000019.8:g.55612277C>T	NCBI36
NG_033800.1:g.37886C>T , LRG_785:g.37886C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002691.4:c.3157C>T MANE Select	NP_002682.2:p.Arg1053Cys
ENST00000440232.7:c.3157C>T MANE Select	ENSP00000406046.1:p.Arg1053Cys
NM_001256849.1:c.3157C>T , LRG_785t1:c.3157C>T	NP_001243778.1:p.Arg1053Cys
NM_001308632.1:c.3235C>T , LRG_785t2:c.3235C>T	NP_001295561.1:p.Arg1079Cys
NM_002691.3:c.3157C>T	NP_002682.2:p.Arg1053Cys
NR_046402.1:n.3123C>T
NR_046402.2:n.3099C>T
ENST00000440232.6:c.3157C>T	ENSP00000406046.1:p.Arg1053Cys
ENST00000593887.2:c.3157C>T	ENSP00000472607.2:p.Arg1053Cys
ENST00000593981.1:c.730C>T
ENST00000595904.5:c.3235C>T	ENSP00000472445.1:p.Arg1079Cys
ENST00000595904.6:c.3235C>T	ENSP00000472445.1:p.Arg1079Cys
ENST00000596221.1:n.182C>T
ENST00000597963.5:n.501C>T
ENST00000599632.1:c.365C>T
ENST00000599857.5:c.3157C>T	ENSP00000473052.1:p.Arg1053Cys
ENST00000599857.7:c.3157C>T	ENSP00000473052.1:p.Arg1053Cys
ENST00000600746.2:n.3348C>T
ENST00000600859.5:c.*24C>T	ENSP00000470726.1:n.*24C>T
ENST00000601098.6:c.3157C>T	ENSP00000472600.2:p.Arg1053Cys
ENST00000613923.4:c.3235C>T	ENSP00000481858.1:p.Arg1079Cys
ENST00000613923.6:c.3085C>T	ENSP00000481858.2:p.Arg1029Cys
ENST00000644560.2:c.3163C>T	ENSP00000495618.2:p.Arg1055Cys
ENST00000687454.1:c.3157C>T	ENSP00000510052.1:p.Arg1053Cys
XM_005259008.3:c.3085C>T	XP_005259065.1:p.Arg1029Cys
XM_005259008.4:c.3085C>T	XP_005259065.1:p.Arg1029Cys
XM_011527038.1:c.3157C>T	XP_011525340.1:p.Arg1053Cys
XM_011527039.1:c.3157C>T	XP_011525341.1:p.Arg1053Cys
XM_017026881.1:c.3157C>T	XP_016882370.1:p.Arg1053Cys
XM_017026882.2:c.3085C>T	XP_016882371.1:p.Arg1029Cys