Canonical Allele Identifier: CA9808962

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 1652442
• ClinVar RCV Id: RCV002154492
• dbSNP Id: rs200076102
• ExAC: 20:31024610 C / T
• gnomAD v2: 20-31024610-C-T
• gnomAD v3: 20-32436807-C-T
• gnomAD v4: 20-32436807-C-T
• MyVariant Identifiers: chr20:g.31024610C>T (hg19) ; chr20:g.32436807C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436807C>T , CM000682.2:g.32436807C>T	GRCh38
NC_000020.10:g.31024610C>T , CM000682.1:g.31024610C>T	GRCh37
NC_000020.9:g.30488271C>T	NCBI36
NG_027868.1:g.83464C>T , LRG_630:g.83464C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4095C>T MANE Select	ENSP00000364839.4:p.Gly1365=
ENST00000646985.1:c.3912C>T	ENSP00000495053.1:p.Gly1304=
ENST00000647223.1:n.6448C>T
ENST00000651418.1:c.1870-1623C>T	ENSP00000499150.1:n.1870-1623C>T
ENST00000306058.9:c.4080C>T	ENSP00000305119.5:p.Gly1360=
ENST00000375687.8:c.4095C>T	ENSP00000364839.4:p.Gly1365=
ENST00000613218.4:c.4095C>T	ENSP00000480487.1:p.Gly1365=
ENST00000620121.4:c.4095C>T	ENSP00000481978.1:p.Gly1365=
NM_015338.5:c.4095C>T , LRG_630t1:c.4095C>T	NP_056153.2:p.Gly1365=
XM_006723727.2:c.4092C>T	XP_006723790.1:p.Gly1364=
XM_006723728.2:c.4065C>T	XP_006723791.1:p.Gly1355=
XM_006723730.2:c.4011C>T	XP_006723793.1:p.Gly1337=
XM_006723732.2:c.3912C>T	XP_006723795.1:p.Gly1304=
XM_006723733.1:c.3411C>T	XP_006723796.1:p.Gly1137=
XM_011528647.1:c.4359C>T	XP_011526949.1:p.Gly1453=
XM_011528648.1:c.4356C>T	XP_011526950.1:p.Gly1452=
XM_011528649.1:c.4275C>T	XP_011526951.1:p.Gly1425=
XM_011528650.1:c.4206C>T	XP_011526952.1:p.Gly1402=
XM_011528651.1:c.4074C>T	XP_011526953.1:p.Gly1358=
XM_011528652.1:c.4011C>T	XP_011526954.1:p.Gly1337=
NM_001363734.1:c.3912C>T	NP_001350663.1:p.Gly1304=
XM_006723727.3:c.4092C>T	XP_006723790.1:p.Gly1364=
XM_006723728.3:c.4065C>T	XP_006723791.1:p.Gly1355=
XM_006723730.4:c.4011C>T	XP_006723793.1:p.Gly1337=
XM_011528648.3:c.4356C>T	XP_011526950.1:p.Gly1452=
XM_011528652.2:c.4011C>T	XP_011526954.1:p.Gly1337=
XM_017027704.1:c.4011C>T	XP_016883193.1:p.Gly1337=
XM_017027705.1:c.4011C>T	XP_016883194.1:p.Gly1337=
XM_017027706.1:c.3942C>T	XP_016883195.1:p.Gly1314=
NM_015338.6:c.4095C>T MANE Select	NP_056153.2:p.Gly1365=