Canonical Allele Identifier: CA408551654

Gene: ASXL1

Linked Data

• dbSNP Id: rs1414383610
• gnomAD v2: 20-31016033-G-C
• gnomAD v4: 20-32428230-G-C
• MyVariant Identifiers: chr20:g.31016033G>C (hg19) ; chr20:g.32428230G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428230G>C , CM000682.2:g.32428230G>C	GRCh38
NC_000020.10:g.31016033G>C , CM000682.1:g.31016033G>C	GRCh37
NC_000020.9:g.30479694G>C	NCBI36
NG_027868.1:g.74887G>C , LRG_630:g.74887G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.355G>C MANE Select	ENSP00000364839.4:p.Val119Leu
ENST00000470145.3:n.298G>C
ENST00000643168.1:c.271G>C	ENSP00000495003.1:p.Val91Leu
ENST00000644060.1:n.1159G>C
ENST00000644587.1:c.*194G>C	ENSP00000494813.1:n.*194G>C
ENST00000644615.1:n.59G>C
ENST00000645514.1:n.103G>C
ENST00000646985.1:c.325G>C	ENSP00000495053.1:p.Val109Leu
ENST00000651418.1:c.355G>C	ENSP00000499150.1:p.Val119Leu
ENST00000306058.9:c.340G>C	ENSP00000305119.5:p.Val114Leu
ENST00000375687.8:c.355G>C	ENSP00000364839.4:p.Val119Leu
ENST00000470145.2:n.298G>C
ENST00000613218.4:c.355G>C	ENSP00000480487.1:p.Val119Leu
ENST00000620121.4:c.355G>C	ENSP00000481978.1:p.Val119Leu
NM_015338.5:c.355G>C , LRG_630t1:c.355G>C	NP_056153.2:p.Val119Leu
XM_006723727.2:c.352G>C	XP_006723790.1:p.Val118Leu
XM_006723728.2:c.325G>C	XP_006723791.1:p.Val109Leu
XM_006723730.2:c.271G>C	XP_006723793.1:p.Val91Leu
XM_006723732.2:c.325G>C	XP_006723795.1:p.Val109Leu
XM_011528647.1:c.619G>C	XP_011526949.1:p.Val207Leu
XM_011528648.1:c.616G>C	XP_011526950.1:p.Val206Leu
XM_011528649.1:c.535G>C	XP_011526951.1:p.Val179Leu
XM_011528650.1:c.619G>C	XP_011526952.1:p.Val207Leu
XM_011528651.1:c.334G>C	XP_011526953.1:p.Val112Leu
XM_011528652.1:c.271G>C	XP_011526954.1:p.Val91Leu
NM_001363734.1:c.325G>C	NP_001350663.1:p.Val109Leu
XM_006723727.3:c.352G>C	XP_006723790.1:p.Val118Leu
XM_006723728.3:c.325G>C	XP_006723791.1:p.Val109Leu
XM_006723730.4:c.271G>C	XP_006723793.1:p.Val91Leu
XM_011528648.3:c.616G>C	XP_011526950.1:p.Val206Leu
XM_011528652.2:c.271G>C	XP_011526954.1:p.Val91Leu
XM_017027704.1:c.271G>C	XP_016883193.1:p.Val91Leu
XM_017027705.1:c.271G>C	XP_016883194.1:p.Val91Leu
XM_017027706.1:c.355G>C	XP_016883195.1:p.Val119Leu
NM_015338.6:c.355G>C MANE Select	NP_056153.2:p.Val119Leu