Canonical Allele Identifier: CA408563704

Gene: ASXL1

Linked Data

• dbSNP Id: rs146747814
• gnomAD v3: 20-32436451-C-G
• gnomAD v4: 20-32436451-C-G
• MyVariant Identifiers: chr20:g.31024254C>G (hg19) ; chr20:g.32436451C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436451C>G , CM000682.2:g.32436451C>G	GRCh38
NC_000020.10:g.31024254C>G , CM000682.1:g.31024254C>G	GRCh37
NC_000020.9:g.30487915C>G	NCBI36
NG_027868.1:g.83108C>G , LRG_630:g.83108C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3739C>G MANE Select	ENSP00000364839.4:p.Arg1247Gly
ENST00000646985.1:c.3556C>G	ENSP00000495053.1:p.Arg1186Gly
ENST00000647223.1:n.6092C>G
ENST00000651418.1:c.1869+1870C>G	ENSP00000499150.1:n.1869+1870C>G
ENST00000306058.9:c.3724C>G	ENSP00000305119.5:p.Arg1242Gly
ENST00000375687.8:c.3739C>G	ENSP00000364839.4:p.Arg1247Gly
ENST00000613218.4:c.3739C>G	ENSP00000480487.1:p.Arg1247Gly
ENST00000620121.4:c.3739C>G	ENSP00000481978.1:p.Arg1247Gly
NM_015338.5:c.3739C>G , LRG_630t1:c.3739C>G	NP_056153.2:p.Arg1247Gly
XM_006723727.2:c.3736C>G	XP_006723790.1:p.Arg1246Gly
XM_006723728.2:c.3709C>G	XP_006723791.1:p.Arg1237Gly
XM_006723730.2:c.3655C>G	XP_006723793.1:p.Arg1219Gly
XM_006723732.2:c.3556C>G	XP_006723795.1:p.Arg1186Gly
XM_006723733.1:c.3055C>G	XP_006723796.1:p.Arg1019Gly
XM_011528647.1:c.4003C>G	XP_011526949.1:p.Arg1335Gly
XM_011528648.1:c.4000C>G	XP_011526950.1:p.Arg1334Gly
XM_011528649.1:c.3919C>G	XP_011526951.1:p.Arg1307Gly
XM_011528650.1:c.3850C>G	XP_011526952.1:p.Arg1284Gly
XM_011528651.1:c.3718C>G	XP_011526953.1:p.Arg1240Gly
XM_011528652.1:c.3655C>G	XP_011526954.1:p.Arg1219Gly
NM_001363734.1:c.3556C>G	NP_001350663.1:p.Arg1186Gly
XM_006723727.3:c.3736C>G	XP_006723790.1:p.Arg1246Gly
XM_006723728.3:c.3709C>G	XP_006723791.1:p.Arg1237Gly
XM_006723730.4:c.3655C>G	XP_006723793.1:p.Arg1219Gly
XM_011528648.3:c.4000C>G	XP_011526950.1:p.Arg1334Gly
XM_011528652.2:c.3655C>G	XP_011526954.1:p.Arg1219Gly
XM_017027704.1:c.3655C>G	XP_016883193.1:p.Arg1219Gly
XM_017027705.1:c.3655C>G	XP_016883194.1:p.Arg1219Gly
XM_017027706.1:c.3586C>G	XP_016883195.1:p.Arg1196Gly
NM_015338.6:c.3739C>G MANE Select	NP_056153.2:p.Arg1247Gly