Canonical Allele Identifier: CA9547183

Gene: LIG1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48150104C>T , CM000681.2:g.48150104C>T	GRCh38
NC_000019.9:g.48653361C>T , CM000681.1:g.48653361C>T	GRCh37
NC_000019.8:g.53345173C>T	NCBI36
NG_007395.1:g.25200G>A , LRG_78:g.25200G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000234.3:c.681G>A MANE Select	NP_000225.1:p.Thr227=
ENST00000263274.12:c.681G>A MANE Select	ENSP00000263274.6:p.Thr227=
NM_000234.2:c.681G>A	NP_000225.1:p.Thr227=
NM_001289063.1:c.588G>A	NP_001275992.1:p.Thr196=
NM_001289063.2:c.588G>A	NP_001275992.1:p.Thr196=
NM_001289064.1:c.477G>A	NP_001275993.1:p.Thr159=
NM_001289064.2:c.477G>A	NP_001275993.1:p.Thr159=
NM_001320970.1:c.678G>A	NP_001307899.1:p.Thr226=
NM_001320970.2:c.678G>A	NP_001307899.1:p.Thr226=
NM_001320971.1:c.591G>A	NP_001307900.1:p.Thr197=
NM_001320971.2:c.591G>A	NP_001307900.1:p.Thr197=
NR_110296.1:n.1098G>A
NR_110296.2:n.839G>A
NR_135497.1:n.1101G>A
NR_135497.2:n.842G>A
NR_135498.1:n.1011G>A
NR_135498.2:n.752G>A
NR_135499.1:n.1011G>A
NR_135499.2:n.752G>A
NR_135500.1:n.1278G>A
NR_135500.2:n.1019G>A
NR_135501.1:n.1008G>A
NR_135501.2:n.749G>A
ENST00000263274.11:c.681G>A	ENSP00000263274.6:p.Thr227=
ENST00000427526.6:c.588G>A	ENSP00000442841.1:p.Thr196=
ENST00000536218.5:c.477G>A	ENSP00000441531.1:p.Thr159=
ENST00000542460.5:c.585G>A	ENSP00000445928.1:p.Thr195=
ENST00000594067.5:n.437G>A
ENST00000594759.5:c.678G>A	ENSP00000471380.1:p.Thr226=
ENST00000595758.5:n.551G>A
ENST00000596104.5:n.483G>A
ENST00000596549.6:c.477G>A	ENSP00000471861.2:p.Thr159=
ENST00000596672.6:c.591G>A	ENSP00000472331.2:p.Thr197=
ENST00000599165.5:n.538G>A
ENST00000601091.5:c.681G>A	ENSP00000471836.1:p.Thr227=
ENST00000613670.4:c.681G>A	ENSP00000483027.1:p.Thr227=
ENST00000699866.1:c.678G>A	ENSP00000514663.1:p.Thr226=
ENST00000699867.1:n.698G>A
ENST00000699868.1:c.681G>A	ENSP00000514664.1:p.Thr227=
ENST00000699869.1:c.588G>A	ENSP00000514665.1:p.Thr196=
ENST00000699870.1:c.573G>A	ENSP00000514666.1:p.Thr191=
ENST00000699871.1:c.582G>A	ENSP00000514667.1:p.Thr194=
ENST00000699872.1:c.*450G>A	ENSP00000514668.1:n.*450G>A
ENST00000699873.1:c.591G>A	ENSP00000514669.1:p.Thr197=
ENST00000699874.1:c.591G>A	ENSP00000514670.1:p.Thr197=
ENST00000699875.1:c.678G>A	ENSP00000514671.1:p.Thr226=
ENST00000699877.1:c.678G>A	ENSP00000514672.1:p.Thr226=
ENST00000699878.1:c.678G>A	ENSP00000514673.1:p.Thr226=
ENST00000699879.1:n.839G>A
ENST00000699880.1:n.839G>A
XM_005258934.2:c.591G>A	XP_005258991.1:p.Thr197=
XM_006723215.2:c.678G>A	XP_006723278.1:p.Thr226=
XM_006723216.2:c.681G>A	XP_006723279.1:p.Thr227=
XM_024451513.1:c.573G>A	XP_024307281.1:p.Thr191=
XR_001753966.2:n.984+3986C>T
XR_002958315.1:n.1093G>A
XR_002958316.1:n.985G>A
XR_243932.2:n.738G>A
XR_430200.1:n.738G>A