Canonical Allele Identifier: CA9808914

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 2439270
• ClinVar RCV Id: RCV003141605
• dbSNP Id: rs751259103
• ExAC: 20:31024362 G / A
• gnomAD v2: 20-31024362-G-A
• gnomAD v4: 20-32436559-G-A
• MyVariant Identifiers: chr20:g.31024362G>A (hg19) ; chr20:g.32436559G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436559G>A , CM000682.2:g.32436559G>A	GRCh38
NC_000020.10:g.31024362G>A , CM000682.1:g.31024362G>A	GRCh37
NC_000020.9:g.30488023G>A	NCBI36
NG_027868.1:g.83216G>A , LRG_630:g.83216G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3847G>A MANE Select	ENSP00000364839.4:p.Gly1283Ser
ENST00000646985.1:c.3664G>A	ENSP00000495053.1:p.Gly1222Ser
ENST00000647223.1:n.6200G>A
ENST00000651418.1:c.1870-1871G>A	ENSP00000499150.1:n.1870-1871G>A
ENST00000306058.9:c.3832G>A	ENSP00000305119.5:p.Gly1278Ser
ENST00000375687.8:c.3847G>A	ENSP00000364839.4:p.Gly1283Ser
ENST00000613218.4:c.3847G>A	ENSP00000480487.1:p.Gly1283Ser
ENST00000620121.4:c.3847G>A	ENSP00000481978.1:p.Gly1283Ser
NM_015338.5:c.3847G>A , LRG_630t1:c.3847G>A	NP_056153.2:p.Gly1283Ser
XM_006723727.2:c.3844G>A	XP_006723790.1:p.Gly1282Ser
XM_006723728.2:c.3817G>A	XP_006723791.1:p.Gly1273Ser
XM_006723730.2:c.3763G>A	XP_006723793.1:p.Gly1255Ser
XM_006723732.2:c.3664G>A	XP_006723795.1:p.Gly1222Ser
XM_006723733.1:c.3163G>A	XP_006723796.1:p.Gly1055Ser
XM_011528647.1:c.4111G>A	XP_011526949.1:p.Gly1371Ser
XM_011528648.1:c.4108G>A	XP_011526950.1:p.Gly1370Ser
XM_011528649.1:c.4027G>A	XP_011526951.1:p.Gly1343Ser
XM_011528650.1:c.3958G>A	XP_011526952.1:p.Gly1320Ser
XM_011528651.1:c.3826G>A	XP_011526953.1:p.Gly1276Ser
XM_011528652.1:c.3763G>A	XP_011526954.1:p.Gly1255Ser
NM_001363734.1:c.3664G>A	NP_001350663.1:p.Gly1222Ser
XM_006723727.3:c.3844G>A	XP_006723790.1:p.Gly1282Ser
XM_006723728.3:c.3817G>A	XP_006723791.1:p.Gly1273Ser
XM_006723730.4:c.3763G>A	XP_006723793.1:p.Gly1255Ser
XM_011528648.3:c.4108G>A	XP_011526950.1:p.Gly1370Ser
XM_011528652.2:c.3763G>A	XP_011526954.1:p.Gly1255Ser
XM_017027704.1:c.3763G>A	XP_016883193.1:p.Gly1255Ser
XM_017027705.1:c.3763G>A	XP_016883194.1:p.Gly1255Ser
XM_017027706.1:c.3694G>A	XP_016883195.1:p.Gly1232Ser
NM_015338.6:c.3847G>A MANE Select	NP_056153.2:p.Gly1283Ser