Canonical Allele Identifier: CA408563389

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31024111C>G (hg19) ; chr20:g.32436308C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436308C>G , CM000682.2:g.32436308C>G	GRCh38
NC_000020.10:g.31024111C>G , CM000682.1:g.31024111C>G	GRCh37
NC_000020.9:g.30487772C>G	NCBI36
NG_027868.1:g.82965C>G , LRG_630:g.82965C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3596C>G MANE Select	ENSP00000364839.4:p.Ala1199Gly
ENST00000646985.1:c.3413C>G	ENSP00000495053.1:p.Ala1138Gly
ENST00000647223.1:n.5949C>G
ENST00000651418.1:c.1869+1727C>G	ENSP00000499150.1:n.1869+1727C>G
ENST00000306058.9:c.3581C>G	ENSP00000305119.5:p.Ala1194Gly
ENST00000375687.8:c.3596C>G	ENSP00000364839.4:p.Ala1199Gly
ENST00000613218.4:c.3596C>G	ENSP00000480487.1:p.Ala1199Gly
ENST00000620121.4:c.3596C>G	ENSP00000481978.1:p.Ala1199Gly
NM_015338.5:c.3596C>G , LRG_630t1:c.3596C>G	NP_056153.2:p.Ala1199Gly
XM_006723727.2:c.3593C>G	XP_006723790.1:p.Ala1198Gly
XM_006723728.2:c.3566C>G	XP_006723791.1:p.Ala1189Gly
XM_006723730.2:c.3512C>G	XP_006723793.1:p.Ala1171Gly
XM_006723732.2:c.3413C>G	XP_006723795.1:p.Ala1138Gly
XM_006723733.1:c.2912C>G	XP_006723796.1:p.Ala971Gly
XM_011528647.1:c.3860C>G	XP_011526949.1:p.Ala1287Gly
XM_011528648.1:c.3857C>G	XP_011526950.1:p.Ala1286Gly
XM_011528649.1:c.3776C>G	XP_011526951.1:p.Ala1259Gly
XM_011528650.1:c.3707C>G	XP_011526952.1:p.Ala1236Gly
XM_011528651.1:c.3575C>G	XP_011526953.1:p.Ala1192Gly
XM_011528652.1:c.3512C>G	XP_011526954.1:p.Ala1171Gly
NM_001363734.1:c.3413C>G	NP_001350663.1:p.Ala1138Gly
XM_006723727.3:c.3593C>G	XP_006723790.1:p.Ala1198Gly
XM_006723728.3:c.3566C>G	XP_006723791.1:p.Ala1189Gly
XM_006723730.4:c.3512C>G	XP_006723793.1:p.Ala1171Gly
XM_011528648.3:c.3857C>G	XP_011526950.1:p.Ala1286Gly
XM_011528652.2:c.3512C>G	XP_011526954.1:p.Ala1171Gly
XM_017027704.1:c.3512C>G	XP_016883193.1:p.Ala1171Gly
XM_017027705.1:c.3512C>G	XP_016883194.1:p.Ala1171Gly
XM_017027706.1:c.3443C>G	XP_016883195.1:p.Ala1148Gly
NM_015338.6:c.3596C>G MANE Select	NP_056153.2:p.Ala1199Gly