Canonical Allele Identifier: CA156993

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 133580
• ClinVar RCV Id: RCV000120093 ; RCV000892843 ; RCV002259640
• dbSNP Id: rs146141075
• ExAC: 20:31024260 A / G
• gnomAD v2: 20-31024260-A-G
• gnomAD v3: 20-32436457-A-G
• gnomAD v4: 20-32436457-A-G
• MyVariant Identifiers: chr20:g.31024260A>G (hg19) ; chr20:g.32436457A>G (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436457A>G , CM000682.2:g.32436457A>G	GRCh38
NC_000020.10:g.31024260A>G , CM000682.1:g.31024260A>G	GRCh37
NC_000020.9:g.30487921A>G	NCBI36
NG_027868.1:g.83114A>G , LRG_630:g.83114A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3745A>G MANE Select	ENSP00000364839.4:p.Met1249Val
ENST00000646985.1:c.3562A>G	ENSP00000495053.1:p.Met1188Val
ENST00000647223.1:n.6098A>G
ENST00000651418.1:c.1869+1876A>G	ENSP00000499150.1:n.1869+1876A>G
ENST00000306058.9:c.3730A>G	ENSP00000305119.5:p.Met1244Val
ENST00000375687.8:c.3745A>G	ENSP00000364839.4:p.Met1249Val
ENST00000613218.4:c.3745A>G	ENSP00000480487.1:p.Met1249Val
ENST00000620121.4:c.3745A>G	ENSP00000481978.1:p.Met1249Val
NM_015338.5:c.3745A>G , LRG_630t1:c.3745A>G	NP_056153.2:p.Met1249Val
XM_006723727.2:c.3742A>G	XP_006723790.1:p.Met1248Val
XM_006723728.2:c.3715A>G	XP_006723791.1:p.Met1239Val
XM_006723730.2:c.3661A>G	XP_006723793.1:p.Met1221Val
XM_006723732.2:c.3562A>G	XP_006723795.1:p.Met1188Val
XM_006723733.1:c.3061A>G	XP_006723796.1:p.Met1021Val
XM_011528647.1:c.4009A>G	XP_011526949.1:p.Met1337Val
XM_011528648.1:c.4006A>G	XP_011526950.1:p.Met1336Val
XM_011528649.1:c.3925A>G	XP_011526951.1:p.Met1309Val
XM_011528650.1:c.3856A>G	XP_011526952.1:p.Met1286Val
XM_011528651.1:c.3724A>G	XP_011526953.1:p.Met1242Val
XM_011528652.1:c.3661A>G	XP_011526954.1:p.Met1221Val
NM_001363734.1:c.3562A>G	NP_001350663.1:p.Met1188Val
XM_006723727.3:c.3742A>G	XP_006723790.1:p.Met1248Val
XM_006723728.3:c.3715A>G	XP_006723791.1:p.Met1239Val
XM_006723730.4:c.3661A>G	XP_006723793.1:p.Met1221Val
XM_011528648.3:c.4006A>G	XP_011526950.1:p.Met1336Val
XM_011528652.2:c.3661A>G	XP_011526954.1:p.Met1221Val
XM_017027704.1:c.3661A>G	XP_016883193.1:p.Met1221Val
XM_017027705.1:c.3661A>G	XP_016883194.1:p.Met1221Val
XM_017027706.1:c.3592A>G	XP_016883195.1:p.Met1198Val
NM_015338.6:c.3745A>G MANE Select	NP_056153.2:p.Met1249Val