Canonical Allele Identifier: CA510467298

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31024067A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436264A>C , CM000682.2:g.32436264A>C	GRCh38
NC_000020.10:g.31024067A>C , CM000682.1:g.31024067A>C	GRCh37
NC_000020.9:g.30487728A>C	NCBI36
NG_027868.1:g.82921A>C , LRG_630:g.82921A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3552A>C MANE Select	ENSP00000364839.4:p.Thr1184=
ENST00000646985.1:c.3369A>C	ENSP00000495053.1:p.Thr1123=
ENST00000647223.1:n.5905A>C
ENST00000651418.1:c.1869+1683A>C	ENSP00000499150.1:n.1869+1683A>C
ENST00000306058.9:c.3537A>C	ENSP00000305119.5:p.Thr1179=
ENST00000375687.8:c.3552A>C	ENSP00000364839.4:p.Thr1184=
ENST00000613218.4:c.3552A>C	ENSP00000480487.1:p.Thr1184=
ENST00000620121.4:c.3552A>C	ENSP00000481978.1:p.Thr1184=
NM_015338.5:c.3552A>C , LRG_630t1:c.3552A>C	NP_056153.2:p.Thr1184=
XM_006723727.2:c.3549A>C	XP_006723790.1:p.Thr1183=
XM_006723728.2:c.3522A>C	XP_006723791.1:p.Thr1174=
XM_006723730.2:c.3468A>C	XP_006723793.1:p.Thr1156=
XM_006723732.2:c.3369A>C	XP_006723795.1:p.Thr1123=
XM_006723733.1:c.2868A>C	XP_006723796.1:p.Thr956=
XM_011528647.1:c.3816A>C	XP_011526949.1:p.Thr1272=
XM_011528648.1:c.3813A>C	XP_011526950.1:p.Thr1271=
XM_011528649.1:c.3732A>C	XP_011526951.1:p.Thr1244=
XM_011528650.1:c.3663A>C	XP_011526952.1:p.Thr1221=
XM_011528651.1:c.3531A>C	XP_011526953.1:p.Thr1177=
XM_011528652.1:c.3468A>C	XP_011526954.1:p.Thr1156=
NM_001363734.1:c.3369A>C	NP_001350663.1:p.Thr1123=
XM_006723727.3:c.3549A>C	XP_006723790.1:p.Thr1183=
XM_006723728.3:c.3522A>C	XP_006723791.1:p.Thr1174=
XM_006723730.4:c.3468A>C	XP_006723793.1:p.Thr1156=
XM_011528648.3:c.3813A>C	XP_011526950.1:p.Thr1271=
XM_011528652.2:c.3468A>C	XP_011526954.1:p.Thr1156=
XM_017027704.1:c.3468A>C	XP_016883193.1:p.Thr1156=
XM_017027705.1:c.3468A>C	XP_016883194.1:p.Thr1156=
XM_017027706.1:c.3399A>C	XP_016883195.1:p.Thr1133=
NM_015338.6:c.3552A>C MANE Select	NP_056153.2:p.Thr1184=