Canonical Allele Identifier: CA9808949

Gene: ASXL1

Linked Data

• dbSNP Id: rs771708439
• ExAC: 20:31024536 A / C
• gnomAD v2: 20-31024536-A-C
• gnomAD v4: 20-32436733-A-C
• MyVariant Identifiers: chr20:g.31024536A>C (hg19) ; chr20:g.32436733A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436733A>C , CM000682.2:g.32436733A>C	GRCh38
NC_000020.10:g.31024536A>C , CM000682.1:g.31024536A>C	GRCh37
NC_000020.9:g.30488197A>C	NCBI36
NG_027868.1:g.83390A>C , LRG_630:g.83390A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4021A>C MANE Select	ENSP00000364839.4:p.Ser1341Arg
ENST00000646985.1:c.3838A>C	ENSP00000495053.1:p.Ser1280Arg
ENST00000647223.1:n.6374A>C
ENST00000651418.1:c.1870-1697A>C	ENSP00000499150.1:n.1870-1697A>C
ENST00000306058.9:c.4006A>C	ENSP00000305119.5:p.Ser1336Arg
ENST00000375687.8:c.4021A>C	ENSP00000364839.4:p.Ser1341Arg
ENST00000613218.4:c.4021A>C	ENSP00000480487.1:p.Ser1341Arg
ENST00000620121.4:c.4021A>C	ENSP00000481978.1:p.Ser1341Arg
NM_015338.5:c.4021A>C , LRG_630t1:c.4021A>C	NP_056153.2:p.Ser1341Arg
XM_006723727.2:c.4018A>C	XP_006723790.1:p.Ser1340Arg
XM_006723728.2:c.3991A>C	XP_006723791.1:p.Ser1331Arg
XM_006723730.2:c.3937A>C	XP_006723793.1:p.Ser1313Arg
XM_006723732.2:c.3838A>C	XP_006723795.1:p.Ser1280Arg
XM_006723733.1:c.3337A>C	XP_006723796.1:p.Ser1113Arg
XM_011528647.1:c.4285A>C	XP_011526949.1:p.Ser1429Arg
XM_011528648.1:c.4282A>C	XP_011526950.1:p.Ser1428Arg
XM_011528649.1:c.4201A>C	XP_011526951.1:p.Ser1401Arg
XM_011528650.1:c.4132A>C	XP_011526952.1:p.Ser1378Arg
XM_011528651.1:c.4000A>C	XP_011526953.1:p.Ser1334Arg
XM_011528652.1:c.3937A>C	XP_011526954.1:p.Ser1313Arg
NM_001363734.1:c.3838A>C	NP_001350663.1:p.Ser1280Arg
XM_006723727.3:c.4018A>C	XP_006723790.1:p.Ser1340Arg
XM_006723728.3:c.3991A>C	XP_006723791.1:p.Ser1331Arg
XM_006723730.4:c.3937A>C	XP_006723793.1:p.Ser1313Arg
XM_011528648.3:c.4282A>C	XP_011526950.1:p.Ser1428Arg
XM_011528652.2:c.3937A>C	XP_011526954.1:p.Ser1313Arg
XM_017027704.1:c.3937A>C	XP_016883193.1:p.Ser1313Arg
XM_017027705.1:c.3937A>C	XP_016883194.1:p.Ser1313Arg
XM_017027706.1:c.3868A>C	XP_016883195.1:p.Ser1290Arg
NM_015338.6:c.4021A>C MANE Select	NP_056153.2:p.Ser1341Arg