Canonical Allele Identifier: CA354090031

Gene: POLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121487425G>C , CM000665.2:g.121487425G>C	GRCh38
NC_000003.11:g.121206272G>C , CM000665.1:g.121206272G>C	GRCh37
NC_000003.10:g.122688962G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_199420.4:c.5506C>G MANE Select	NP_955452.3:p.Leu1836Val
ENST00000264233.6:c.5506C>G MANE Select	ENSP00000264233.5:p.Leu1836Val
NM_199420.3:c.5506C>G	NP_955452.3:p.Leu1836Val
ENST00000264233.5:c.5506C>G	ENSP00000264233.5:p.Leu1836Val
ENST00000621776.4:c.5911C>G	ENSP00000481120.1:p.Leu1971Val
XM_011512343.1:c.5506C>G	XP_011510645.1:p.Leu1836Val
XM_011512343.2:c.5506C>G	XP_011510645.1:p.Leu1836Val
XM_011512344.1:c.5119C>G	XP_011510646.1:p.Leu1707Val
XM_011512345.1:c.5101C>G	XP_011510647.1:p.Leu1701Val
XM_011512346.1:c.5506C>G	XP_011510648.1:p.Leu1836Val
XM_011512347.1:c.5506C>G	XP_011510649.1:p.Leu1836Val
XM_011512347.2:c.5506C>G	XP_011510649.1:p.Leu1836Val
XM_011512348.1:c.4993C>G	XP_011510650.1:p.Leu1665Val
XM_011512348.2:c.4993C>G	XP_011510650.1:p.Leu1665Val
XM_011512349.1:c.4993C>G	XP_011510651.1:p.Leu1665Val
XM_011512350.1:c.4714C>G	XP_011510652.1:p.Leu1572Val
XM_011512351.1:c.4336C>G	XP_011510653.1:p.Leu1446Val
XM_011512352.1:c.5506C>G	XP_011510654.1:p.Leu1836Val
XM_011512352.2:c.5506C>G	XP_011510654.1:p.Leu1836Val
XM_011512353.1:c.5506C>G	XP_011510655.1:p.Leu1836Val
XM_011512354.1:c.3217C>G	XP_011510656.1:p.Leu1073Val
XM_011512354.2:c.3217C>G	XP_011510656.1:p.Leu1073Val
XM_017005565.1:c.4336C>G	XP_016861054.1:p.Leu1446Val
XR_001739986.1:n.5623C>G
XR_924091.1:n.5611C>G
XR_924091.2:n.5623C>G
XR_924092.1:n.5611C>G
XR_924093.1:n.5611C>G