Canonical Allele Identifier: CA9595613

Gene: POLD1

Linked Data

• ClinVar Variation Id: 407976
• ClinVar RCV Id: RCV001551983 ; RCV003168789
• dbSNP Id: rs750303995
• ExAC: 19:50902193 C / T
• gnomAD v2: 19-50902193-C-T
• gnomAD v3: 19-50398936-C-T
• gnomAD v4: 19-50398936-C-T
• MyVariant Identifiers: chr19:g.50902193C>T (hg19) ; chr19:g.50398936C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50398936C>T , CM000681.2:g.50398936C>T	GRCh38
NC_000019.9:g.50902193C>T , CM000681.1:g.50902193C>T	GRCh37
NC_000019.8:g.55594005C>T	NCBI36
NG_033800.1:g.19614C>T , LRG_785:g.19614C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000593887.2:c.85C>T	ENSP00000472607.2:p.Pro29Ser
ENST00000600746.2:n.196C>T
ENST00000644560.2:c.85C>T	ENSP00000495618.2:p.Pro29Ser
ENST00000687454.1:c.85C>T	ENSP00000510052.1:p.Pro29Ser
ENST00000440232.7:c.85C>T MANE Select	ENSP00000406046.1:p.Pro29Ser
ENST00000595904.6:c.85C>T	ENSP00000472445.1:p.Pro29Ser
ENST00000599857.7:c.85C>T	ENSP00000473052.1:p.Pro29Ser
ENST00000601098.6:c.85C>T	ENSP00000472600.2:p.Pro29Ser
ENST00000613923.6:c.85C>T	ENSP00000481858.2:p.Pro29Ser
ENST00000643407.1:c.85C>T	ENSP00000496078.1:p.Pro29Ser
ENST00000440232.6:c.85C>T	ENSP00000406046.1:p.Pro29Ser
ENST00000593887.1:c.85C>T	ENSP00000472607.1:p.Pro29Ser
ENST00000595904.5:c.85C>T	ENSP00000472445.1:p.Pro29Ser
ENST00000599857.5:c.85C>T	ENSP00000473052.1:p.Pro29Ser
ENST00000600746.1:n.110C>T
ENST00000600859.5:c.85C>T	ENSP00000470726.1:p.Pro29Ser
ENST00000601098.5:c.85C>T	ENSP00000472600.1:p.Pro29Ser
ENST00000613923.4:c.85C>T	ENSP00000481858.1:p.Pro29Ser
NM_001256849.1:c.85C>T , LRG_785t1:c.85C>T	NP_001243778.1:p.Pro29Ser
NM_001308632.1:c.85C>T , LRG_785t2:c.85C>T	NP_001295561.1:p.Pro29Ser
NM_002691.3:c.85C>T	NP_002682.2:p.Pro29Ser
NR_046402.1:n.154C>T
XM_005259008.3:c.85C>T	XP_005259065.1:p.Pro29Ser
XM_011527038.1:c.85C>T	XP_011525340.1:p.Pro29Ser
XM_011527039.1:c.85C>T	XP_011525341.1:p.Pro29Ser
XR_935835.1:n.187C>T
XM_005259008.4:c.85C>T	XP_005259065.1:p.Pro29Ser
XM_017026881.1:c.85C>T	XP_016882370.1:p.Pro29Ser
XM_017026882.2:c.85C>T	XP_016882371.1:p.Pro29Ser
XR_935835.2:n.186C>T
NM_002691.4:c.85C>T MANE Select	NP_002682.2:p.Pro29Ser
NR_046402.2:n.130C>T