Canonical Allele Identifier: CA510467621

Gene: ASXL1

Linked Data

• dbSNP Id: rs1296646966
• gnomAD v3: 20-32436453-T-G
• gnomAD v4: 20-32436453-T-G
• MyVariant Identifiers: chr20:g.31024256T>G (hg19) ; chr20:g.32436453T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436453T>G , CM000682.2:g.32436453T>G	GRCh38
NC_000020.10:g.31024256T>G , CM000682.1:g.31024256T>G	GRCh37
NC_000020.9:g.30487917T>G	NCBI36
NG_027868.1:g.83110T>G , LRG_630:g.83110T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3741T>G MANE Select	ENSP00000364839.4:p.Arg1247=
ENST00000646985.1:c.3558T>G	ENSP00000495053.1:p.Arg1186=
ENST00000647223.1:n.6094T>G
ENST00000651418.1:c.1869+1872T>G	ENSP00000499150.1:n.1869+1872T>G
ENST00000306058.9:c.3726T>G	ENSP00000305119.5:p.Arg1242=
ENST00000375687.8:c.3741T>G	ENSP00000364839.4:p.Arg1247=
ENST00000613218.4:c.3741T>G	ENSP00000480487.1:p.Arg1247=
ENST00000620121.4:c.3741T>G	ENSP00000481978.1:p.Arg1247=
NM_015338.5:c.3741T>G , LRG_630t1:c.3741T>G	NP_056153.2:p.Arg1247=
XM_006723727.2:c.3738T>G	XP_006723790.1:p.Arg1246=
XM_006723728.2:c.3711T>G	XP_006723791.1:p.Arg1237=
XM_006723730.2:c.3657T>G	XP_006723793.1:p.Arg1219=
XM_006723732.2:c.3558T>G	XP_006723795.1:p.Arg1186=
XM_006723733.1:c.3057T>G	XP_006723796.1:p.Arg1019=
XM_011528647.1:c.4005T>G	XP_011526949.1:p.Arg1335=
XM_011528648.1:c.4002T>G	XP_011526950.1:p.Arg1334=
XM_011528649.1:c.3921T>G	XP_011526951.1:p.Arg1307=
XM_011528650.1:c.3852T>G	XP_011526952.1:p.Arg1284=
XM_011528651.1:c.3720T>G	XP_011526953.1:p.Arg1240=
XM_011528652.1:c.3657T>G	XP_011526954.1:p.Arg1219=
NM_001363734.1:c.3558T>G	NP_001350663.1:p.Arg1186=
XM_006723727.3:c.3738T>G	XP_006723790.1:p.Arg1246=
XM_006723728.3:c.3711T>G	XP_006723791.1:p.Arg1237=
XM_006723730.4:c.3657T>G	XP_006723793.1:p.Arg1219=
XM_011528648.3:c.4002T>G	XP_011526950.1:p.Arg1334=
XM_011528652.2:c.3657T>G	XP_011526954.1:p.Arg1219=
XM_017027704.1:c.3657T>G	XP_016883193.1:p.Arg1219=
XM_017027705.1:c.3657T>G	XP_016883194.1:p.Arg1219=
XM_017027706.1:c.3588T>G	XP_016883195.1:p.Arg1196=
NM_015338.6:c.3741T>G MANE Select	NP_056153.2:p.Arg1247=