Canonical Allele Identifier: CA408563480

Gene: ASXL1

Linked Data

• dbSNP Id: rs1569337181
• gnomAD v4: 20-32436349-C-G
• MyVariant Identifiers: chr20:g.31024152C>G (hg19) ; chr20:g.32436349C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436349C>G , CM000682.2:g.32436349C>G	GRCh38
NC_000020.10:g.31024152C>G , CM000682.1:g.31024152C>G	GRCh37
NC_000020.9:g.30487813C>G	NCBI36
NG_027868.1:g.83006C>G , LRG_630:g.83006C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375687.10:c.3637C>G MANE Select	ENSP00000364839.4:p.Leu1213Val
ENST00000646985.1:c.3454C>G	ENSP00000495053.1:p.Leu1152Val
ENST00000647223.1:n.5990C>G
ENST00000651418.1:c.1869+1768C>G	ENSP00000499150.1:n.1869+1768C>G
ENST00000306058.9:c.3622C>G	ENSP00000305119.5:p.Leu1208Val
ENST00000375687.8:c.3637C>G	ENSP00000364839.4:p.Leu1213Val
ENST00000613218.4:c.3637C>G	ENSP00000480487.1:p.Leu1213Val
ENST00000620121.4:c.3637C>G	ENSP00000481978.1:p.Leu1213Val
NM_015338.5:c.3637C>G , LRG_630t1:c.3637C>G	NP_056153.2:p.Leu1213Val
XM_006723727.2:c.3634C>G	XP_006723790.1:p.Leu1212Val
XM_006723728.2:c.3607C>G	XP_006723791.1:p.Leu1203Val
XM_006723730.2:c.3553C>G	XP_006723793.1:p.Leu1185Val
XM_006723732.2:c.3454C>G	XP_006723795.1:p.Leu1152Val
XM_006723733.1:c.2953C>G	XP_006723796.1:p.Leu985Val
XM_011528647.1:c.3901C>G	XP_011526949.1:p.Leu1301Val
XM_011528648.1:c.3898C>G	XP_011526950.1:p.Leu1300Val
XM_011528649.1:c.3817C>G	XP_011526951.1:p.Leu1273Val
XM_011528650.1:c.3748C>G	XP_011526952.1:p.Leu1250Val
XM_011528651.1:c.3616C>G	XP_011526953.1:p.Leu1206Val
XM_011528652.1:c.3553C>G	XP_011526954.1:p.Leu1185Val
NM_001363734.1:c.3454C>G	NP_001350663.1:p.Leu1152Val
XM_006723727.3:c.3634C>G	XP_006723790.1:p.Leu1212Val
XM_006723728.3:c.3607C>G	XP_006723791.1:p.Leu1203Val
XM_006723730.4:c.3553C>G	XP_006723793.1:p.Leu1185Val
XM_011528648.3:c.3898C>G	XP_011526950.1:p.Leu1300Val
XM_011528652.2:c.3553C>G	XP_011526954.1:p.Leu1185Val
XM_017027704.1:c.3553C>G	XP_016883193.1:p.Leu1185Val
XM_017027705.1:c.3553C>G	XP_016883194.1:p.Leu1185Val
XM_017027706.1:c.3484C>G	XP_016883195.1:p.Leu1162Val
NM_015338.6:c.3637C>G MANE Select	NP_056153.2:p.Leu1213Val