Canonical Allele Identifier: CA9808769

Gene: ASXL1

Linked Data

• dbSNP Id: rs772813587
• ExAC: 20:31023686 T / A
• gnomAD v2: 20-31023686-T-A
• gnomAD v4: 20-32435883-T-A
• MyVariant Identifiers: chr20:g.31023686T>A (hg19) ; chr20:g.32435883T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435883T>A , CM000682.2:g.32435883T>A	GRCh38
NC_000020.10:g.31023686T>A , CM000682.1:g.31023686T>A	GRCh37
NC_000020.9:g.30487347T>A	NCBI36
NG_027868.1:g.82540T>A , LRG_630:g.82540T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3171T>A MANE Select	ENSP00000364839.4:p.Asp1057Glu
ENST00000646985.1:c.2988T>A	ENSP00000495053.1:p.Asp996Glu
ENST00000647223.1:n.5524T>A
ENST00000651418.1:c.1869+1302T>A	ENSP00000499150.1:n.1869+1302T>A
ENST00000306058.9:c.3156T>A	ENSP00000305119.5:p.Asp1052Glu
ENST00000375687.8:c.3171T>A	ENSP00000364839.4:p.Asp1057Glu
ENST00000613218.4:c.3171T>A	ENSP00000480487.1:p.Asp1057Glu
ENST00000620121.4:c.3171T>A	ENSP00000481978.1:p.Asp1057Glu
NM_015338.5:c.3171T>A , LRG_630t1:c.3171T>A	NP_056153.2:p.Asp1057Glu
XM_006723727.2:c.3168T>A	XP_006723790.1:p.Asp1056Glu
XM_006723728.2:c.3141T>A	XP_006723791.1:p.Asp1047Glu
XM_006723730.2:c.3087T>A	XP_006723793.1:p.Asp1029Glu
XM_006723732.2:c.2988T>A	XP_006723795.1:p.Asp996Glu
XM_006723733.1:c.2487T>A	XP_006723796.1:p.Asp829Glu
XM_011528647.1:c.3435T>A	XP_011526949.1:p.Asp1145Glu
XM_011528648.1:c.3432T>A	XP_011526950.1:p.Asp1144Glu
XM_011528649.1:c.3351T>A	XP_011526951.1:p.Asp1117Glu
XM_011528650.1:c.3282T>A	XP_011526952.1:p.Asp1094Glu
XM_011528651.1:c.3150T>A	XP_011526953.1:p.Asp1050Glu
XM_011528652.1:c.3087T>A	XP_011526954.1:p.Asp1029Glu
NM_001363734.1:c.2988T>A	NP_001350663.1:p.Asp996Glu
XM_006723727.3:c.3168T>A	XP_006723790.1:p.Asp1056Glu
XM_006723728.3:c.3141T>A	XP_006723791.1:p.Asp1047Glu
XM_006723730.4:c.3087T>A	XP_006723793.1:p.Asp1029Glu
XM_011528648.3:c.3432T>A	XP_011526950.1:p.Asp1144Glu
XM_011528652.2:c.3087T>A	XP_011526954.1:p.Asp1029Glu
XM_017027704.1:c.3087T>A	XP_016883193.1:p.Asp1029Glu
XM_017027705.1:c.3087T>A	XP_016883194.1:p.Asp1029Glu
XM_017027706.1:c.3018T>A	XP_016883195.1:p.Asp1006Glu
NM_015338.6:c.3171T>A MANE Select	NP_056153.2:p.Asp1057Glu