Canonical Allele Identifier: CA510467580

Gene: ASXL1

Linked Data

• dbSNP Id: rs2145386080
• MyVariant Identifiers: chr20:g.31024223T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436420T>A , CM000682.2:g.32436420T>A	GRCh38
NC_000020.10:g.31024223T>A , CM000682.1:g.31024223T>A	GRCh37
NC_000020.9:g.30487884T>A	NCBI36
NG_027868.1:g.83077T>A , LRG_630:g.83077T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3708T>A MANE Select	ENSP00000364839.4:p.Ser1236=
ENST00000646985.1:c.3525T>A	ENSP00000495053.1:p.Ser1175=
ENST00000647223.1:n.6061T>A
ENST00000651418.1:c.1869+1839T>A	ENSP00000499150.1:n.1869+1839T>A
ENST00000306058.9:c.3693T>A	ENSP00000305119.5:p.Ser1231=
ENST00000375687.8:c.3708T>A	ENSP00000364839.4:p.Ser1236=
ENST00000613218.4:c.3708T>A	ENSP00000480487.1:p.Ser1236=
ENST00000620121.4:c.3708T>A	ENSP00000481978.1:p.Ser1236=
NM_015338.5:c.3708T>A , LRG_630t1:c.3708T>A	NP_056153.2:p.Ser1236=
XM_006723727.2:c.3705T>A	XP_006723790.1:p.Ser1235=
XM_006723728.2:c.3678T>A	XP_006723791.1:p.Ser1226=
XM_006723730.2:c.3624T>A	XP_006723793.1:p.Ser1208=
XM_006723732.2:c.3525T>A	XP_006723795.1:p.Ser1175=
XM_006723733.1:c.3024T>A	XP_006723796.1:p.Ser1008=
XM_011528647.1:c.3972T>A	XP_011526949.1:p.Ser1324=
XM_011528648.1:c.3969T>A	XP_011526950.1:p.Ser1323=
XM_011528649.1:c.3888T>A	XP_011526951.1:p.Ser1296=
XM_011528650.1:c.3819T>A	XP_011526952.1:p.Ser1273=
XM_011528651.1:c.3687T>A	XP_011526953.1:p.Ser1229=
XM_011528652.1:c.3624T>A	XP_011526954.1:p.Ser1208=
NM_001363734.1:c.3525T>A	NP_001350663.1:p.Ser1175=
XM_006723727.3:c.3705T>A	XP_006723790.1:p.Ser1235=
XM_006723728.3:c.3678T>A	XP_006723791.1:p.Ser1226=
XM_006723730.4:c.3624T>A	XP_006723793.1:p.Ser1208=
XM_011528648.3:c.3969T>A	XP_011526950.1:p.Ser1323=
XM_011528652.2:c.3624T>A	XP_011526954.1:p.Ser1208=
XM_017027704.1:c.3624T>A	XP_016883193.1:p.Ser1208=
XM_017027705.1:c.3624T>A	XP_016883194.1:p.Ser1208=
XM_017027706.1:c.3555T>A	XP_016883195.1:p.Ser1185=
NM_015338.6:c.3708T>A MANE Select	NP_056153.2:p.Ser1236=