Canonical Allele Identifier: CA508305321
Community Standard Title: NM_002691.4(POLD1):c.2874G>A (p.Leu958=)
Gene: POLD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50416449G>A , CM000681.2:g.50416449G>A GRCh38
NC_000019.9:g.50919706G>A , CM000681.1:g.50919706G>A GRCh37
NC_000019.8:g.55611518G>A NCBI36
NG_033800.1:g.37127G>A , LRG_785:g.37127G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002691.4:c.2874G>A MANE Select NP_002682.2:p.Leu958=
ENST00000440232.7:c.2874G>A MANE Select ENSP00000406046.1:p.Leu958=
NM_001256849.1:c.2874G>A , LRG_785t1:c.2874G>A NP_001243778.1:p.Leu958=
NM_001308632.1:c.2952G>A , LRG_785t2:c.2952G>A NP_001295561.1:p.Leu984=
NM_002691.3:c.2874G>A NP_002682.2:p.Leu958=
NR_046402.1:n.2840G>A
NR_046402.2:n.2816G>A
ENST00000440232.6:c.2874G>A ENSP00000406046.1:p.Leu958=
ENST00000593407.5:c.655G>A
ENST00000593887.2:c.2874G>A ENSP00000472607.2:p.Leu958=
ENST00000593981.1:c.500G>A
ENST00000595904.5:c.2952G>A ENSP00000472445.1:p.Leu984=
ENST00000595904.6:c.2952G>A ENSP00000472445.1:p.Leu984=
ENST00000596648.1:n.808G>A
ENST00000597963.5:n.137G>A
ENST00000599632.1:c.82G>A
ENST00000599857.5:c.2874G>A ENSP00000473052.1:p.Leu958=
ENST00000599857.7:c.2874G>A ENSP00000473052.1:p.Leu958=
ENST00000600746.2:n.3065G>A
ENST00000600859.5:c.2771G>A ENSP00000470726.1:p.Trp924Ter
ENST00000601098.6:c.2874G>A ENSP00000472600.2:p.Leu958=
ENST00000613923.4:c.2952G>A ENSP00000481858.1:p.Leu984=
ENST00000613923.6:c.2802G>A ENSP00000481858.2:p.Leu934=
ENST00000643407.1:c.*630G>A ENSP00000496078.1:n.*630G>A
ENST00000644560.2:c.2880G>A ENSP00000495618.2:p.Leu960=
ENST00000687454.1:c.2874G>A ENSP00000510052.1:p.Leu958=
XM_005259008.3:c.2802G>A XP_005259065.1:p.Leu934=
XM_005259008.4:c.2802G>A XP_005259065.1:p.Leu934=
XM_011527038.1:c.2874G>A XP_011525340.1:p.Leu958=
XM_011527039.1:c.2874G>A XP_011525341.1:p.Leu958=
XM_017026881.1:c.2874G>A XP_016882370.1:p.Leu958=
XM_017026882.2:c.2802G>A XP_016882371.1:p.Leu934=