Canonical Allele Identifier: CA408564031

Gene: ASXL1

Linked Data

• dbSNP Id: rs2145389149
• MyVariant Identifiers: chr20:g.31024415A>T (hg19) ; chr20:g.32436612A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436612A>T , CM000682.2:g.32436612A>T	GRCh38
NC_000020.10:g.31024415A>T , CM000682.1:g.31024415A>T	GRCh37
NC_000020.9:g.30488076A>T	NCBI36
NG_027868.1:g.83269A>T , LRG_630:g.83269A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3900A>T MANE Select	ENSP00000364839.4:p.Gln1300His
ENST00000646985.1:c.3717A>T	ENSP00000495053.1:p.Gln1239His
ENST00000647223.1:n.6253A>T
ENST00000651418.1:c.1870-1818A>T	ENSP00000499150.1:n.1870-1818A>T
ENST00000306058.9:c.3885A>T	ENSP00000305119.5:p.Gln1295His
ENST00000375687.8:c.3900A>T	ENSP00000364839.4:p.Gln1300His
ENST00000613218.4:c.3900A>T	ENSP00000480487.1:p.Gln1300His
ENST00000620121.4:c.3900A>T	ENSP00000481978.1:p.Gln1300His
NM_015338.5:c.3900A>T , LRG_630t1:c.3900A>T	NP_056153.2:p.Gln1300His
XM_006723727.2:c.3897A>T	XP_006723790.1:p.Gln1299His
XM_006723728.2:c.3870A>T	XP_006723791.1:p.Gln1290His
XM_006723730.2:c.3816A>T	XP_006723793.1:p.Gln1272His
XM_006723732.2:c.3717A>T	XP_006723795.1:p.Gln1239His
XM_006723733.1:c.3216A>T	XP_006723796.1:p.Gln1072His
XM_011528647.1:c.4164A>T	XP_011526949.1:p.Gln1388His
XM_011528648.1:c.4161A>T	XP_011526950.1:p.Gln1387His
XM_011528649.1:c.4080A>T	XP_011526951.1:p.Gln1360His
XM_011528650.1:c.4011A>T	XP_011526952.1:p.Gln1337His
XM_011528651.1:c.3879A>T	XP_011526953.1:p.Gln1293His
XM_011528652.1:c.3816A>T	XP_011526954.1:p.Gln1272His
NM_001363734.1:c.3717A>T	NP_001350663.1:p.Gln1239His
XM_006723727.3:c.3897A>T	XP_006723790.1:p.Gln1299His
XM_006723728.3:c.3870A>T	XP_006723791.1:p.Gln1290His
XM_006723730.4:c.3816A>T	XP_006723793.1:p.Gln1272His
XM_011528648.3:c.4161A>T	XP_011526950.1:p.Gln1387His
XM_011528652.2:c.3816A>T	XP_011526954.1:p.Gln1272His
XM_017027704.1:c.3816A>T	XP_016883193.1:p.Gln1272His
XM_017027705.1:c.3816A>T	XP_016883194.1:p.Gln1272His
XM_017027706.1:c.3747A>T	XP_016883195.1:p.Gln1249His
NM_015338.6:c.3900A>T MANE Select	NP_056153.2:p.Gln1300His