Canonical Allele Identifier: CA510467460

Gene: ASXL1

Linked Data

• dbSNP Id: rs2145388786
• MyVariant Identifiers: chr20:g.31024385C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436582C>G , CM000682.2:g.32436582C>G	GRCh38
NC_000020.10:g.31024385C>G , CM000682.1:g.31024385C>G	GRCh37
NC_000020.9:g.30488046C>G	NCBI36
NG_027868.1:g.83239C>G , LRG_630:g.83239C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3870C>G MANE Select	ENSP00000364839.4:p.Ala1290=
ENST00000646985.1:c.3687C>G	ENSP00000495053.1:p.Ala1229=
ENST00000647223.1:n.6223C>G
ENST00000651418.1:c.1870-1848C>G	ENSP00000499150.1:n.1870-1848C>G
ENST00000306058.9:c.3855C>G	ENSP00000305119.5:p.Ala1285=
ENST00000375687.8:c.3870C>G	ENSP00000364839.4:p.Ala1290=
ENST00000613218.4:c.3870C>G	ENSP00000480487.1:p.Ala1290=
ENST00000620121.4:c.3870C>G	ENSP00000481978.1:p.Ala1290=
NM_015338.5:c.3870C>G , LRG_630t1:c.3870C>G	NP_056153.2:p.Ala1290=
XM_006723727.2:c.3867C>G	XP_006723790.1:p.Ala1289=
XM_006723728.2:c.3840C>G	XP_006723791.1:p.Ala1280=
XM_006723730.2:c.3786C>G	XP_006723793.1:p.Ala1262=
XM_006723732.2:c.3687C>G	XP_006723795.1:p.Ala1229=
XM_006723733.1:c.3186C>G	XP_006723796.1:p.Ala1062=
XM_011528647.1:c.4134C>G	XP_011526949.1:p.Ala1378=
XM_011528648.1:c.4131C>G	XP_011526950.1:p.Ala1377=
XM_011528649.1:c.4050C>G	XP_011526951.1:p.Ala1350=
XM_011528650.1:c.3981C>G	XP_011526952.1:p.Ala1327=
XM_011528651.1:c.3849C>G	XP_011526953.1:p.Ala1283=
XM_011528652.1:c.3786C>G	XP_011526954.1:p.Ala1262=
NM_001363734.1:c.3687C>G	NP_001350663.1:p.Ala1229=
XM_006723727.3:c.3867C>G	XP_006723790.1:p.Ala1289=
XM_006723728.3:c.3840C>G	XP_006723791.1:p.Ala1280=
XM_006723730.4:c.3786C>G	XP_006723793.1:p.Ala1262=
XM_011528648.3:c.4131C>G	XP_011526950.1:p.Ala1377=
XM_011528652.2:c.3786C>G	XP_011526954.1:p.Ala1262=
XM_017027704.1:c.3786C>G	XP_016883193.1:p.Ala1262=
XM_017027705.1:c.3786C>G	XP_016883194.1:p.Ala1262=
XM_017027706.1:c.3717C>G	XP_016883195.1:p.Ala1239=
NM_015338.6:c.3870C>G MANE Select	NP_056153.2:p.Ala1290=