Canonical Allele Identifier: CA9808948

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 2905612
• ClinVar RCV Id: RCV003731789
• dbSNP Id: rs375493039
• ExAC: 20:31024533 C / A
• gnomAD v2: 20-31024533-C-A
• gnomAD v3: 20-32436730-C-A
• gnomAD v4: 20-32436730-C-A
• MyVariant Identifiers: chr20:g.31024533C>A (hg19) ; chr20:g.32436730C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436730C>A , CM000682.2:g.32436730C>A	GRCh38
NC_000020.10:g.31024533C>A , CM000682.1:g.31024533C>A	GRCh37
NC_000020.9:g.30488194C>A	NCBI36
NG_027868.1:g.83387C>A , LRG_630:g.83387C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4018C>A MANE Select	ENSP00000364839.4:p.Pro1340Thr
ENST00000646985.1:c.3835C>A	ENSP00000495053.1:p.Pro1279Thr
ENST00000647223.1:n.6371C>A
ENST00000651418.1:c.1870-1700C>A	ENSP00000499150.1:n.1870-1700C>A
ENST00000306058.9:c.4003C>A	ENSP00000305119.5:p.Pro1335Thr
ENST00000375687.8:c.4018C>A	ENSP00000364839.4:p.Pro1340Thr
ENST00000613218.4:c.4018C>A	ENSP00000480487.1:p.Pro1340Thr
ENST00000620121.4:c.4018C>A	ENSP00000481978.1:p.Pro1340Thr
NM_015338.5:c.4018C>A , LRG_630t1:c.4018C>A	NP_056153.2:p.Pro1340Thr
XM_006723727.2:c.4015C>A	XP_006723790.1:p.Pro1339Thr
XM_006723728.2:c.3988C>A	XP_006723791.1:p.Pro1330Thr
XM_006723730.2:c.3934C>A	XP_006723793.1:p.Pro1312Thr
XM_006723732.2:c.3835C>A	XP_006723795.1:p.Pro1279Thr
XM_006723733.1:c.3334C>A	XP_006723796.1:p.Pro1112Thr
XM_011528647.1:c.4282C>A	XP_011526949.1:p.Pro1428Thr
XM_011528648.1:c.4279C>A	XP_011526950.1:p.Pro1427Thr
XM_011528649.1:c.4198C>A	XP_011526951.1:p.Pro1400Thr
XM_011528650.1:c.4129C>A	XP_011526952.1:p.Pro1377Thr
XM_011528651.1:c.3997C>A	XP_011526953.1:p.Pro1333Thr
XM_011528652.1:c.3934C>A	XP_011526954.1:p.Pro1312Thr
NM_001363734.1:c.3835C>A	NP_001350663.1:p.Pro1279Thr
XM_006723727.3:c.4015C>A	XP_006723790.1:p.Pro1339Thr
XM_006723728.3:c.3988C>A	XP_006723791.1:p.Pro1330Thr
XM_006723730.4:c.3934C>A	XP_006723793.1:p.Pro1312Thr
XM_011528648.3:c.4279C>A	XP_011526950.1:p.Pro1427Thr
XM_011528652.2:c.3934C>A	XP_011526954.1:p.Pro1312Thr
XM_017027704.1:c.3934C>A	XP_016883193.1:p.Pro1312Thr
XM_017027705.1:c.3934C>A	XP_016883194.1:p.Pro1312Thr
XM_017027706.1:c.3865C>A	XP_016883195.1:p.Pro1289Thr
NM_015338.6:c.4018C>A MANE Select	NP_056153.2:p.Pro1340Thr