Canonical Allele Identifier: CA9808055

Gene: ASXL1

Linked Data

• dbSNP Id: rs756181482
• ExAC: 20:31015964 A / G
• gnomAD v2: 20-31015964-A-G
• gnomAD v4: 20-32428161-A-G
• MyVariant Identifiers: chr20:g.31015964A>G (hg19) ; chr20:g.32428161A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428161A>G , CM000682.2:g.32428161A>G	GRCh38
NC_000020.10:g.31015964A>G , CM000682.1:g.31015964A>G	GRCh37
NC_000020.9:g.30479625A>G	NCBI36
NG_027868.1:g.74818A>G , LRG_630:g.74818A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.286A>G MANE Select	ENSP00000364839.4:p.Thr96Ala
ENST00000470145.3:n.229A>G
ENST00000643168.1:c.202A>G	ENSP00000495003.1:p.Thr68Ala
ENST00000644060.1:n.1090A>G
ENST00000644587.1:c.*125A>G	ENSP00000494813.1:n.*125A>G
ENST00000645514.1:n.34A>G
ENST00000645688.1:c.202A>G	ENSP00000495488.1:p.Thr68Ala
ENST00000646985.1:c.256A>G	ENSP00000495053.1:p.Thr86Ala
ENST00000651418.1:c.286A>G	ENSP00000499150.1:p.Thr96Ala
ENST00000306058.9:c.271A>G	ENSP00000305119.5:p.Thr91Ala
ENST00000375687.8:c.286A>G	ENSP00000364839.4:p.Thr96Ala
ENST00000470145.2:n.229A>G
ENST00000613218.4:c.286A>G	ENSP00000480487.1:p.Thr96Ala
ENST00000620121.4:c.286A>G	ENSP00000481978.1:p.Thr96Ala
NM_015338.5:c.286A>G , LRG_630t1:c.286A>G	NP_056153.2:p.Thr96Ala
XM_006723727.2:c.283A>G	XP_006723790.1:p.Thr95Ala
XM_006723728.2:c.256A>G	XP_006723791.1:p.Thr86Ala
XM_006723730.2:c.202A>G	XP_006723793.1:p.Thr68Ala
XM_006723732.2:c.256A>G	XP_006723795.1:p.Thr86Ala
XM_011528647.1:c.550A>G	XP_011526949.1:p.Thr184Ala
XM_011528648.1:c.547A>G	XP_011526950.1:p.Thr183Ala
XM_011528649.1:c.466A>G	XP_011526951.1:p.Thr156Ala
XM_011528650.1:c.550A>G	XP_011526952.1:p.Thr184Ala
XM_011528651.1:c.265A>G	XP_011526953.1:p.Thr89Ala
XM_011528652.1:c.202A>G	XP_011526954.1:p.Thr68Ala
NM_001363734.1:c.256A>G	NP_001350663.1:p.Thr86Ala
XM_006723727.3:c.283A>G	XP_006723790.1:p.Thr95Ala
XM_006723728.3:c.256A>G	XP_006723791.1:p.Thr86Ala
XM_006723730.4:c.202A>G	XP_006723793.1:p.Thr68Ala
XM_011528648.3:c.547A>G	XP_011526950.1:p.Thr183Ala
XM_011528652.2:c.202A>G	XP_011526954.1:p.Thr68Ala
XM_017027704.1:c.202A>G	XP_016883193.1:p.Thr68Ala
XM_017027705.1:c.202A>G	XP_016883194.1:p.Thr68Ala
XM_017027706.1:c.286A>G	XP_016883195.1:p.Thr96Ala
NM_015338.6:c.286A>G MANE Select	NP_056153.2:p.Thr96Ala