Canonical Allele Identifier: CA236147

Gene: ASXL1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435701G>C , CM000682.2:g.32435701G>C	GRCh38
NC_000020.10:g.31023504G>C , CM000682.1:g.31023504G>C	GRCh37
NC_000020.9:g.30487165G>C	NCBI36
NG_027868.1:g.82358G>C , LRG_630:g.82358G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.2989G>C MANE Select	ENSP00000364839.4:p.Glu997Gln
ENST00000646985.1:c.2806G>C	ENSP00000495053.1:p.Glu936Gln
ENST00000647223.1:n.5342G>C
ENST00000651418.1:c.1869+1120G>C	ENSP00000499150.1:n.1869+1120G>C
ENST00000306058.9:c.2974G>C	ENSP00000305119.5:p.Glu992Gln
ENST00000375687.8:c.2989G>C	ENSP00000364839.4:p.Glu997Gln
ENST00000613218.4:c.2989G>C	ENSP00000480487.1:p.Glu997Gln
ENST00000620121.4:c.2989G>C	ENSP00000481978.1:p.Glu997Gln
NM_015338.5:c.2989G>C , LRG_630t1:c.2989G>C	NP_056153.2:p.Glu997Gln
XM_006723727.2:c.2986G>C	XP_006723790.1:p.Glu996Gln
XM_006723728.2:c.2959G>C	XP_006723791.1:p.Glu987Gln
XM_006723730.2:c.2905G>C	XP_006723793.1:p.Glu969Gln
XM_006723732.2:c.2806G>C	XP_006723795.1:p.Glu936Gln
XM_006723733.1:c.2305G>C	XP_006723796.1:p.Glu769Gln
XM_011528647.1:c.3253G>C	XP_011526949.1:p.Glu1085Gln
XM_011528648.1:c.3250G>C	XP_011526950.1:p.Glu1084Gln
XM_011528649.1:c.3169G>C	XP_011526951.1:p.Glu1057Gln
XM_011528650.1:c.3100G>C	XP_011526952.1:p.Glu1034Gln
XM_011528651.1:c.2968G>C	XP_011526953.1:p.Glu990Gln
XM_011528652.1:c.2905G>C	XP_011526954.1:p.Glu969Gln
NM_001363734.1:c.2806G>C	NP_001350663.1:p.Glu936Gln
XM_006723727.3:c.2986G>C	XP_006723790.1:p.Glu996Gln
XM_006723728.3:c.2959G>C	XP_006723791.1:p.Glu987Gln
XM_006723730.4:c.2905G>C	XP_006723793.1:p.Glu969Gln
XM_011528648.3:c.3250G>C	XP_011526950.1:p.Glu1084Gln
XM_011528652.2:c.2905G>C	XP_011526954.1:p.Glu969Gln
XM_017027704.1:c.2905G>C	XP_016883193.1:p.Glu969Gln
XM_017027705.1:c.2905G>C	XP_016883194.1:p.Glu969Gln
XM_017027706.1:c.2836G>C	XP_016883195.1:p.Glu946Gln
NM_015338.6:c.2989G>C MANE Select	NP_056153.2:p.Glu997Gln