Canonical Allele Identifier: CA510200415

Gene: ASXL1

Linked Data

• dbSNP Id: rs1403128477
• gnomAD v3: 20-32428163-A-C
• gnomAD v4: 20-32428163-A-C
• MyVariant Identifiers: chr20:g.31015966A>C (hg19) ; chr20:g.32428163A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428163A>C , CM000682.2:g.32428163A>C	GRCh38
NC_000020.10:g.31015966A>C , CM000682.1:g.31015966A>C	GRCh37
NC_000020.9:g.30479627A>C	NCBI36
NG_027868.1:g.74820A>C , LRG_630:g.74820A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.288A>C MANE Select	ENSP00000364839.4:p.Thr96=
ENST00000470145.3:n.231A>C
ENST00000643168.1:c.204A>C	ENSP00000495003.1:p.Thr68=
ENST00000644060.1:n.1092A>C
ENST00000644587.1:c.*127A>C	ENSP00000494813.1:n.*127A>C
ENST00000645514.1:n.36A>C
ENST00000645688.1:c.204A>C	ENSP00000495488.1:p.Thr68=
ENST00000646985.1:c.258A>C	ENSP00000495053.1:p.Thr86=
ENST00000651418.1:c.288A>C	ENSP00000499150.1:p.Thr96=
ENST00000306058.9:c.273A>C	ENSP00000305119.5:p.Thr91=
ENST00000375687.8:c.288A>C	ENSP00000364839.4:p.Thr96=
ENST00000470145.2:n.231A>C
ENST00000613218.4:c.288A>C	ENSP00000480487.1:p.Thr96=
ENST00000620121.4:c.288A>C	ENSP00000481978.1:p.Thr96=
NM_015338.5:c.288A>C , LRG_630t1:c.288A>C	NP_056153.2:p.Thr96=
XM_006723727.2:c.285A>C	XP_006723790.1:p.Thr95=
XM_006723728.2:c.258A>C	XP_006723791.1:p.Thr86=
XM_006723730.2:c.204A>C	XP_006723793.1:p.Thr68=
XM_006723732.2:c.258A>C	XP_006723795.1:p.Thr86=
XM_011528647.1:c.552A>C	XP_011526949.1:p.Thr184=
XM_011528648.1:c.549A>C	XP_011526950.1:p.Thr183=
XM_011528649.1:c.468A>C	XP_011526951.1:p.Thr156=
XM_011528650.1:c.552A>C	XP_011526952.1:p.Thr184=
XM_011528651.1:c.267A>C	XP_011526953.1:p.Thr89=
XM_011528652.1:c.204A>C	XP_011526954.1:p.Thr68=
NM_001363734.1:c.258A>C	NP_001350663.1:p.Thr86=
XM_006723727.3:c.285A>C	XP_006723790.1:p.Thr95=
XM_006723728.3:c.258A>C	XP_006723791.1:p.Thr86=
XM_006723730.4:c.204A>C	XP_006723793.1:p.Thr68=
XM_011528648.3:c.549A>C	XP_011526950.1:p.Thr183=
XM_011528652.2:c.204A>C	XP_011526954.1:p.Thr68=
XM_017027704.1:c.204A>C	XP_016883193.1:p.Thr68=
XM_017027705.1:c.204A>C	XP_016883194.1:p.Thr68=
XM_017027706.1:c.288A>C	XP_016883195.1:p.Thr96=
NM_015338.6:c.288A>C MANE Select	NP_056153.2:p.Thr96=