Canonical Allele Identifier: CA408564027

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31024414A>C (hg19) ; chr20:g.32436611A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436611A>C , CM000682.2:g.32436611A>C	GRCh38
NC_000020.10:g.31024414A>C , CM000682.1:g.31024414A>C	GRCh37
NC_000020.9:g.30488075A>C	NCBI36
NG_027868.1:g.83268A>C , LRG_630:g.83268A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3899A>C MANE Select	ENSP00000364839.4:p.Gln1300Pro
ENST00000646985.1:c.3716A>C	ENSP00000495053.1:p.Gln1239Pro
ENST00000647223.1:n.6252A>C
ENST00000651418.1:c.1870-1819A>C	ENSP00000499150.1:n.1870-1819A>C
ENST00000306058.9:c.3884A>C	ENSP00000305119.5:p.Gln1295Pro
ENST00000375687.8:c.3899A>C	ENSP00000364839.4:p.Gln1300Pro
ENST00000613218.4:c.3899A>C	ENSP00000480487.1:p.Gln1300Pro
ENST00000620121.4:c.3899A>C	ENSP00000481978.1:p.Gln1300Pro
NM_015338.5:c.3899A>C , LRG_630t1:c.3899A>C	NP_056153.2:p.Gln1300Pro
XM_006723727.2:c.3896A>C	XP_006723790.1:p.Gln1299Pro
XM_006723728.2:c.3869A>C	XP_006723791.1:p.Gln1290Pro
XM_006723730.2:c.3815A>C	XP_006723793.1:p.Gln1272Pro
XM_006723732.2:c.3716A>C	XP_006723795.1:p.Gln1239Pro
XM_006723733.1:c.3215A>C	XP_006723796.1:p.Gln1072Pro
XM_011528647.1:c.4163A>C	XP_011526949.1:p.Gln1388Pro
XM_011528648.1:c.4160A>C	XP_011526950.1:p.Gln1387Pro
XM_011528649.1:c.4079A>C	XP_011526951.1:p.Gln1360Pro
XM_011528650.1:c.4010A>C	XP_011526952.1:p.Gln1337Pro
XM_011528651.1:c.3878A>C	XP_011526953.1:p.Gln1293Pro
XM_011528652.1:c.3815A>C	XP_011526954.1:p.Gln1272Pro
NM_001363734.1:c.3716A>C	NP_001350663.1:p.Gln1239Pro
XM_006723727.3:c.3896A>C	XP_006723790.1:p.Gln1299Pro
XM_006723728.3:c.3869A>C	XP_006723791.1:p.Gln1290Pro
XM_006723730.4:c.3815A>C	XP_006723793.1:p.Gln1272Pro
XM_011528648.3:c.4160A>C	XP_011526950.1:p.Gln1387Pro
XM_011528652.2:c.3815A>C	XP_011526954.1:p.Gln1272Pro
XM_017027704.1:c.3815A>C	XP_016883193.1:p.Gln1272Pro
XM_017027705.1:c.3815A>C	XP_016883194.1:p.Gln1272Pro
XM_017027706.1:c.3746A>C	XP_016883195.1:p.Gln1249Pro
NM_015338.6:c.3899A>C MANE Select	NP_056153.2:p.Gln1300Pro