Canonical Allele Identifier: CA156999

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 133582
• ClinVar RCV Id: RCV000120095 ; RCV002515817
• dbSNP Id: rs200702600
• ExAC: 20:31023598 C / T
• gnomAD v2: 20-31023598-C-T
• gnomAD v3: 20-32435795-C-T
• gnomAD v4: 20-32435795-C-T
• COSMIC: COSM4774828
• MyVariant Identifiers: chr20:g.31023598C>T (hg19) ; chr20:g.32435795C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435795C>T , CM000682.2:g.32435795C>T	GRCh38
NC_000020.10:g.31023598C>T , CM000682.1:g.31023598C>T	GRCh37
NC_000020.9:g.30487259C>T	NCBI36
NG_027868.1:g.82452C>T , LRG_630:g.82452C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375687.10:c.3083C>T MANE Select	ENSP00000364839.4:p.Ser1028Leu
ENST00000646985.1:c.2900C>T	ENSP00000495053.1:p.Ser967Leu
ENST00000647223.1:n.5436C>T
ENST00000651418.1:c.1869+1214C>T	ENSP00000499150.1:n.1869+1214C>T
ENST00000306058.9:c.3068C>T	ENSP00000305119.5:p.Ser1023Leu
ENST00000375687.8:c.3083C>T	ENSP00000364839.4:p.Ser1028Leu
ENST00000613218.4:c.3083C>T	ENSP00000480487.1:p.Ser1028Leu
ENST00000620121.4:c.3083C>T	ENSP00000481978.1:p.Ser1028Leu
NM_015338.5:c.3083C>T , LRG_630t1:c.3083C>T	NP_056153.2:p.Ser1028Leu
XM_006723727.2:c.3080C>T	XP_006723790.1:p.Ser1027Leu
XM_006723728.2:c.3053C>T	XP_006723791.1:p.Ser1018Leu
XM_006723730.2:c.2999C>T	XP_006723793.1:p.Ser1000Leu
XM_006723732.2:c.2900C>T	XP_006723795.1:p.Ser967Leu
XM_006723733.1:c.2399C>T	XP_006723796.1:p.Ser800Leu
XM_011528647.1:c.3347C>T	XP_011526949.1:p.Ser1116Leu
XM_011528648.1:c.3344C>T	XP_011526950.1:p.Ser1115Leu
XM_011528649.1:c.3263C>T	XP_011526951.1:p.Ser1088Leu
XM_011528650.1:c.3194C>T	XP_011526952.1:p.Ser1065Leu
XM_011528651.1:c.3062C>T	XP_011526953.1:p.Ser1021Leu
XM_011528652.1:c.2999C>T	XP_011526954.1:p.Ser1000Leu
NM_001363734.1:c.2900C>T	NP_001350663.1:p.Ser967Leu
XM_006723727.3:c.3080C>T	XP_006723790.1:p.Ser1027Leu
XM_006723728.3:c.3053C>T	XP_006723791.1:p.Ser1018Leu
XM_006723730.4:c.2999C>T	XP_006723793.1:p.Ser1000Leu
XM_011528648.3:c.3344C>T	XP_011526950.1:p.Ser1115Leu
XM_011528652.2:c.2999C>T	XP_011526954.1:p.Ser1000Leu
XM_017027704.1:c.2999C>T	XP_016883193.1:p.Ser1000Leu
XM_017027705.1:c.2999C>T	XP_016883194.1:p.Ser1000Leu
XM_017027706.1:c.2930C>T	XP_016883195.1:p.Ser977Leu
NM_015338.6:c.3083C>T MANE Select	NP_056153.2:p.Ser1028Leu