Canonical Allele Identifier: CA408563469

Gene: ASXL1

Linked Data

• dbSNP Id: rs2145384821
• MyVariant Identifiers: chr20:g.31024147A>T (hg19) ; chr20:g.32436344A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436344A>T , CM000682.2:g.32436344A>T	GRCh38
NC_000020.10:g.31024147A>T , CM000682.1:g.31024147A>T	GRCh37
NC_000020.9:g.30487808A>T	NCBI36
NG_027868.1:g.83001A>T , LRG_630:g.83001A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3632A>T MANE Select	ENSP00000364839.4:p.Asp1211Val
ENST00000646985.1:c.3449A>T	ENSP00000495053.1:p.Asp1150Val
ENST00000647223.1:n.5985A>T
ENST00000651418.1:c.1869+1763A>T	ENSP00000499150.1:n.1869+1763A>T
ENST00000306058.9:c.3617A>T	ENSP00000305119.5:p.Asp1206Val
ENST00000375687.8:c.3632A>T	ENSP00000364839.4:p.Asp1211Val
ENST00000613218.4:c.3632A>T	ENSP00000480487.1:p.Asp1211Val
ENST00000620121.4:c.3632A>T	ENSP00000481978.1:p.Asp1211Val
NM_015338.5:c.3632A>T , LRG_630t1:c.3632A>T	NP_056153.2:p.Asp1211Val
XM_006723727.2:c.3629A>T	XP_006723790.1:p.Asp1210Val
XM_006723728.2:c.3602A>T	XP_006723791.1:p.Asp1201Val
XM_006723730.2:c.3548A>T	XP_006723793.1:p.Asp1183Val
XM_006723732.2:c.3449A>T	XP_006723795.1:p.Asp1150Val
XM_006723733.1:c.2948A>T	XP_006723796.1:p.Asp983Val
XM_011528647.1:c.3896A>T	XP_011526949.1:p.Asp1299Val
XM_011528648.1:c.3893A>T	XP_011526950.1:p.Asp1298Val
XM_011528649.1:c.3812A>T	XP_011526951.1:p.Asp1271Val
XM_011528650.1:c.3743A>T	XP_011526952.1:p.Asp1248Val
XM_011528651.1:c.3611A>T	XP_011526953.1:p.Asp1204Val
XM_011528652.1:c.3548A>T	XP_011526954.1:p.Asp1183Val
NM_001363734.1:c.3449A>T	NP_001350663.1:p.Asp1150Val
XM_006723727.3:c.3629A>T	XP_006723790.1:p.Asp1210Val
XM_006723728.3:c.3602A>T	XP_006723791.1:p.Asp1201Val
XM_006723730.4:c.3548A>T	XP_006723793.1:p.Asp1183Val
XM_011528648.3:c.3893A>T	XP_011526950.1:p.Asp1298Val
XM_011528652.2:c.3548A>T	XP_011526954.1:p.Asp1183Val
XM_017027704.1:c.3548A>T	XP_016883193.1:p.Asp1183Val
XM_017027705.1:c.3548A>T	XP_016883194.1:p.Asp1183Val
XM_017027706.1:c.3479A>T	XP_016883195.1:p.Asp1160Val
NM_015338.6:c.3632A>T MANE Select	NP_056153.2:p.Asp1211Val