Canonical Allele Identifier: CA406987870
Gene: POLD1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50417924C>G , CM000681.2:g.50417924C>G GRCh38
NC_000019.9:g.50921181C>G , CM000681.1:g.50921181C>G GRCh37
NC_000019.8:g.55612993C>G NCBI36
NG_033800.1:g.38602C>G , LRG_785:g.38602C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593887.2:c.3301C>G ENSP00000472607.2:p.Pro1101Ala
ENST00000600746.2:n.3492C>G
ENST00000644560.2:c.3307C>G ENSP00000495618.2:p.Pro1103Ala
ENST00000687454.1:c.3301C>G ENSP00000510052.1:p.Pro1101Ala
ENST00000440232.7:c.3301C>G MANE Select ENSP00000406046.1:p.Pro1101Ala
ENST00000595904.6:c.3379C>G ENSP00000472445.1:p.Pro1127Ala
ENST00000599857.7:c.3301C>G ENSP00000473052.1:p.Pro1101Ala
ENST00000601098.6:c.3301C>G ENSP00000472600.2:p.Pro1101Ala
ENST00000613923.6:c.3229C>G ENSP00000481858.2:p.Pro1077Ala
ENST00000440232.6:c.3301C>G ENSP00000406046.1:p.Pro1101Ala
ENST00000595904.5:c.3379C>G ENSP00000472445.1:p.Pro1127Ala
ENST00000596221.1:n.326C>G
ENST00000597963.5:n.645C>G
ENST00000599632.1:c.426+655C>G
ENST00000599857.5:c.3301C>G ENSP00000473052.1:p.Pro1101Ala
ENST00000600859.5:c.*168C>G ENSP00000470726.1:n.*168C>G
ENST00000613923.4:c.3379C>G ENSP00000481858.1:p.Pro1127Ala
NM_001256849.1:c.3301C>G , LRG_785t1:c.3301C>G NP_001243778.1:p.Pro1101Ala
NM_001308632.1:c.3379C>G , LRG_785t2:c.3379C>G NP_001295561.1:p.Pro1127Ala
NM_002691.3:c.3301C>G NP_002682.2:p.Pro1101Ala
NR_046402.1:n.3267C>G
XM_005259008.3:c.3229C>G XP_005259065.1:p.Pro1077Ala
XM_011527038.1:c.3301C>G XP_011525340.1:p.Pro1101Ala
XM_011527039.1:c.3301C>G XP_011525341.1:p.Pro1101Ala
XM_005259008.4:c.3229C>G XP_005259065.1:p.Pro1077Ala
XM_017026881.1:c.3301C>G XP_016882370.1:p.Pro1101Ala
XM_017026882.2:c.3229C>G XP_016882371.1:p.Pro1077Ala
NM_002691.4:c.3301C>G MANE Select NP_002682.2:p.Pro1101Ala
NR_046402.2:n.3243C>G