Canonical Allele Identifier: CA408564149

Gene: ASXL1

Linked Data

• dbSNP Id: rs2145390287
• MyVariant Identifiers: chr20:g.31024476G>C (hg19) ; chr20:g.32436673G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436673G>C , CM000682.2:g.32436673G>C	GRCh38
NC_000020.10:g.31024476G>C , CM000682.1:g.31024476G>C	GRCh37
NC_000020.9:g.30488137G>C	NCBI36
NG_027868.1:g.83330G>C , LRG_630:g.83330G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3961G>C MANE Select	ENSP00000364839.4:p.Asp1321His
ENST00000646985.1:c.3778G>C	ENSP00000495053.1:p.Asp1260His
ENST00000647223.1:n.6314G>C
ENST00000651418.1:c.1870-1757G>C	ENSP00000499150.1:n.1870-1757G>C
ENST00000306058.9:c.3946G>C	ENSP00000305119.5:p.Asp1316His
ENST00000375687.8:c.3961G>C	ENSP00000364839.4:p.Asp1321His
ENST00000613218.4:c.3961G>C	ENSP00000480487.1:p.Asp1321His
ENST00000620121.4:c.3961G>C	ENSP00000481978.1:p.Asp1321His
NM_015338.5:c.3961G>C , LRG_630t1:c.3961G>C	NP_056153.2:p.Asp1321His
XM_006723727.2:c.3958G>C	XP_006723790.1:p.Asp1320His
XM_006723728.2:c.3931G>C	XP_006723791.1:p.Asp1311His
XM_006723730.2:c.3877G>C	XP_006723793.1:p.Asp1293His
XM_006723732.2:c.3778G>C	XP_006723795.1:p.Asp1260His
XM_006723733.1:c.3277G>C	XP_006723796.1:p.Asp1093His
XM_011528647.1:c.4225G>C	XP_011526949.1:p.Asp1409His
XM_011528648.1:c.4222G>C	XP_011526950.1:p.Asp1408His
XM_011528649.1:c.4141G>C	XP_011526951.1:p.Asp1381His
XM_011528650.1:c.4072G>C	XP_011526952.1:p.Asp1358His
XM_011528651.1:c.3940G>C	XP_011526953.1:p.Asp1314His
XM_011528652.1:c.3877G>C	XP_011526954.1:p.Asp1293His
NM_001363734.1:c.3778G>C	NP_001350663.1:p.Asp1260His
XM_006723727.3:c.3958G>C	XP_006723790.1:p.Asp1320His
XM_006723728.3:c.3931G>C	XP_006723791.1:p.Asp1311His
XM_006723730.4:c.3877G>C	XP_006723793.1:p.Asp1293His
XM_011528648.3:c.4222G>C	XP_011526950.1:p.Asp1408His
XM_011528652.2:c.3877G>C	XP_011526954.1:p.Asp1293His
XM_017027704.1:c.3877G>C	XP_016883193.1:p.Asp1293His
XM_017027705.1:c.3877G>C	XP_016883194.1:p.Asp1293His
XM_017027706.1:c.3808G>C	XP_016883195.1:p.Asp1270His
NM_015338.6:c.3961G>C MANE Select	NP_056153.2:p.Asp1321His