Canonical Allele Identifier: CA408551703

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31016046A>C (hg19) ; chr20:g.32428243A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428243A>C , CM000682.2:g.32428243A>C	GRCh38
NC_000020.10:g.31016046A>C , CM000682.1:g.31016046A>C	GRCh37
NC_000020.9:g.30479707A>C	NCBI36
NG_027868.1:g.74900A>C , LRG_630:g.74900A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.368A>C MANE Select	ENSP00000364839.4:p.Asn123Thr
ENST00000470145.3:n.311A>C
ENST00000643168.1:c.284A>C	ENSP00000495003.1:p.Asn95Thr
ENST00000644060.1:n.1172A>C
ENST00000644587.1:c.*207A>C	ENSP00000494813.1:n.*207A>C
ENST00000644615.1:n.72A>C
ENST00000645514.1:n.116A>C
ENST00000646985.1:c.338A>C	ENSP00000495053.1:p.Asn113Thr
ENST00000651418.1:c.368A>C	ENSP00000499150.1:p.Asn123Thr
ENST00000306058.9:c.353A>C	ENSP00000305119.5:p.Asn118Thr
ENST00000375687.8:c.368A>C	ENSP00000364839.4:p.Asn123Thr
ENST00000470145.2:n.311A>C
ENST00000613218.4:c.368A>C	ENSP00000480487.1:p.Asn123Thr
ENST00000620121.4:c.368A>C	ENSP00000481978.1:p.Asn123Thr
NM_015338.5:c.368A>C , LRG_630t1:c.368A>C	NP_056153.2:p.Asn123Thr
XM_006723727.2:c.365A>C	XP_006723790.1:p.Asn122Thr
XM_006723728.2:c.338A>C	XP_006723791.1:p.Asn113Thr
XM_006723730.2:c.284A>C	XP_006723793.1:p.Asn95Thr
XM_006723732.2:c.338A>C	XP_006723795.1:p.Asn113Thr
XM_011528647.1:c.632A>C	XP_011526949.1:p.Asn211Thr
XM_011528648.1:c.629A>C	XP_011526950.1:p.Asn210Thr
XM_011528649.1:c.548A>C	XP_011526951.1:p.Asn183Thr
XM_011528650.1:c.632A>C	XP_011526952.1:p.Asn211Thr
XM_011528651.1:c.347A>C	XP_011526953.1:p.Asn116Thr
XM_011528652.1:c.284A>C	XP_011526954.1:p.Asn95Thr
NM_001363734.1:c.338A>C	NP_001350663.1:p.Asn113Thr
XM_006723727.3:c.365A>C	XP_006723790.1:p.Asn122Thr
XM_006723728.3:c.338A>C	XP_006723791.1:p.Asn113Thr
XM_006723730.4:c.284A>C	XP_006723793.1:p.Asn95Thr
XM_011528648.3:c.629A>C	XP_011526950.1:p.Asn210Thr
XM_011528652.2:c.284A>C	XP_011526954.1:p.Asn95Thr
XM_017027704.1:c.284A>C	XP_016883193.1:p.Asn95Thr
XM_017027705.1:c.284A>C	XP_016883194.1:p.Asn95Thr
XM_017027706.1:c.368A>C	XP_016883195.1:p.Asn123Thr
NM_015338.6:c.368A>C MANE Select	NP_056153.2:p.Asn123Thr