Canonical Allele Identifier: CA408563960

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31024381G>C (hg19) ; chr20:g.32436578G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436578G>C , CM000682.2:g.32436578G>C	GRCh38
NC_000020.10:g.31024381G>C , CM000682.1:g.31024381G>C	GRCh37
NC_000020.9:g.30488042G>C	NCBI36
NG_027868.1:g.83235G>C , LRG_630:g.83235G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3866G>C MANE Select	ENSP00000364839.4:p.Arg1289Pro
ENST00000646985.1:c.3683G>C	ENSP00000495053.1:p.Arg1228Pro
ENST00000647223.1:n.6219G>C
ENST00000651418.1:c.1870-1852G>C	ENSP00000499150.1:n.1870-1852G>C
ENST00000306058.9:c.3851G>C	ENSP00000305119.5:p.Arg1284Pro
ENST00000375687.8:c.3866G>C	ENSP00000364839.4:p.Arg1289Pro
ENST00000613218.4:c.3866G>C	ENSP00000480487.1:p.Arg1289Pro
ENST00000620121.4:c.3866G>C	ENSP00000481978.1:p.Arg1289Pro
NM_015338.5:c.3866G>C , LRG_630t1:c.3866G>C	NP_056153.2:p.Arg1289Pro
XM_006723727.2:c.3863G>C	XP_006723790.1:p.Arg1288Pro
XM_006723728.2:c.3836G>C	XP_006723791.1:p.Arg1279Pro
XM_006723730.2:c.3782G>C	XP_006723793.1:p.Arg1261Pro
XM_006723732.2:c.3683G>C	XP_006723795.1:p.Arg1228Pro
XM_006723733.1:c.3182G>C	XP_006723796.1:p.Arg1061Pro
XM_011528647.1:c.4130G>C	XP_011526949.1:p.Arg1377Pro
XM_011528648.1:c.4127G>C	XP_011526950.1:p.Arg1376Pro
XM_011528649.1:c.4046G>C	XP_011526951.1:p.Arg1349Pro
XM_011528650.1:c.3977G>C	XP_011526952.1:p.Arg1326Pro
XM_011528651.1:c.3845G>C	XP_011526953.1:p.Arg1282Pro
XM_011528652.1:c.3782G>C	XP_011526954.1:p.Arg1261Pro
NM_001363734.1:c.3683G>C	NP_001350663.1:p.Arg1228Pro
XM_006723727.3:c.3863G>C	XP_006723790.1:p.Arg1288Pro
XM_006723728.3:c.3836G>C	XP_006723791.1:p.Arg1279Pro
XM_006723730.4:c.3782G>C	XP_006723793.1:p.Arg1261Pro
XM_011528648.3:c.4127G>C	XP_011526950.1:p.Arg1376Pro
XM_011528652.2:c.3782G>C	XP_011526954.1:p.Arg1261Pro
XM_017027704.1:c.3782G>C	XP_016883193.1:p.Arg1261Pro
XM_017027705.1:c.3782G>C	XP_016883194.1:p.Arg1261Pro
XM_017027706.1:c.3713G>C	XP_016883195.1:p.Arg1238Pro
NM_015338.6:c.3866G>C MANE Select	NP_056153.2:p.Arg1289Pro