Canonical Allele Identifier: CA9546785

Gene: LIG1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48134021G>A , CM000681.2:g.48134021G>A	GRCh38
NC_000019.9:g.48637278G>A , CM000681.1:g.48637278G>A	GRCh37
NC_000019.8:g.53329090G>A	NCBI36
NG_007395.1:g.41283C>T , LRG_78:g.41283C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000234.3:c.1569C>T MANE Select	NP_000225.1:p.His523=
ENST00000263274.12:c.1569C>T MANE Select	ENSP00000263274.6:p.His523=
NM_000234.2:c.1569C>T	NP_000225.1:p.His523=
NM_001289063.1:c.1476C>T	NP_001275992.1:p.His492=
NM_001289063.2:c.1476C>T	NP_001275992.1:p.His492=
NM_001289064.1:c.1365C>T	NP_001275993.1:p.His455=
NM_001289064.2:c.1365C>T	NP_001275993.1:p.His455=
NM_001320970.1:c.1566C>T	NP_001307899.1:p.His522=
NM_001320970.2:c.1566C>T	NP_001307899.1:p.His522=
NM_001320971.1:c.1479C>T	NP_001307900.1:p.His493=
NM_001320971.2:c.1479C>T	NP_001307900.1:p.His493=
NR_110296.1:n.1986C>T
NR_110296.2:n.1727C>T
NR_135497.1:n.1989C>T
NR_135497.2:n.1730C>T
NR_135498.1:n.1859-924C>T
NR_135498.2:n.1600-924C>T
NR_135499.1:n.1899C>T
NR_135499.2:n.1640C>T
NR_135500.1:n.2166C>T
NR_135500.2:n.1907C>T
NR_135501.1:n.1851-924C>T
NR_135501.2:n.1592-924C>T
ENST00000263274.11:c.1569C>T	ENSP00000263274.6:p.His523=
ENST00000427526.6:c.1476C>T	ENSP00000442841.1:p.His492=
ENST00000536218.5:c.1365C>T	ENSP00000441531.1:p.His455=
ENST00000594067.5:n.1325C>T
ENST00000594759.5:c.1566C>T	ENSP00000471380.1:p.His522=
ENST00000596549.6:c.1365C>T	ENSP00000471861.2:p.His455=
ENST00000596672.5:c.44-924C>T
ENST00000596672.6:c.*668-924C>T	ENSP00000472331.2:n.*668-924C>T
ENST00000597901.2:n.2289-924C>T
ENST00000601091.5:c.1569C>T	ENSP00000471836.1:p.His523=
ENST00000613670.4:c.1569C>T	ENSP00000483027.1:p.His523=
ENST00000699866.1:c.1566C>T	ENSP00000514663.1:p.His522=
ENST00000699867.1:n.1586C>T
ENST00000699868.1:c.1569C>T	ENSP00000514664.1:p.His523=
ENST00000699869.1:c.1431-924C>T	ENSP00000514665.1:n.1431-924C>T
ENST00000699870.1:c.1416-924C>T	ENSP00000514666.1:n.1416-924C>T
ENST00000699871.1:c.1470C>T	ENSP00000514667.1:p.His490=
ENST00000699872.1:c.*1338C>T	ENSP00000514668.1:n.*1338C>T
ENST00000699873.1:c.1479C>T	ENSP00000514669.1:p.His493=
ENST00000699874.1:c.1479C>T	ENSP00000514670.1:p.His493=
ENST00000699875.1:c.1566C>T	ENSP00000514671.1:p.His522=
ENST00000699876.1:n.1937C>T
ENST00000699877.1:c.1566C>T	ENSP00000514672.1:p.His522=
ENST00000699878.1:c.1566C>T	ENSP00000514673.1:p.His522=
ENST00000699879.1:n.1727C>T
XM_005258934.2:c.1479C>T	XP_005258991.1:p.His493=
XM_006723215.2:c.1566C>T	XP_006723278.1:p.His522=
XM_006723216.2:c.1569C>T	XP_006723279.1:p.His523=
XM_024451513.1:c.1461C>T	XP_024307281.1:p.His487=
XR_002958315.1:n.1936-924C>T
XR_002958316.1:n.1828-924C>T
XR_243932.2:n.1626C>T
XR_430200.1:n.1581-924C>T