Canonical Allele Identifier: CA9808778

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 338106
• ClinVar RCV Id: RCV000361222 ; RCV001861163
• dbSNP Id: rs531415735
• ExAC: 20:31023727 C / T
• gnomAD v2: 20-31023727-C-T
• gnomAD v3: 20-32435924-C-T
• gnomAD v4: 20-32435924-C-T
• MyVariant Identifiers: chr20:g.31023727C>T (hg19) ; chr20:g.32435924C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435924C>T , CM000682.2:g.32435924C>T	GRCh38
NC_000020.10:g.31023727C>T , CM000682.1:g.31023727C>T	GRCh37
NC_000020.9:g.30487388C>T	NCBI36
NG_027868.1:g.82581C>T , LRG_630:g.82581C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3212C>T MANE Select	ENSP00000364839.4:p.Ala1071Val
ENST00000646985.1:c.3029C>T	ENSP00000495053.1:p.Ala1010Val
ENST00000647223.1:n.5565C>T
ENST00000651418.1:c.1869+1343C>T	ENSP00000499150.1:n.1869+1343C>T
ENST00000306058.9:c.3197C>T	ENSP00000305119.5:p.Ala1066Val
ENST00000375687.8:c.3212C>T	ENSP00000364839.4:p.Ala1071Val
ENST00000613218.4:c.3212C>T	ENSP00000480487.1:p.Ala1071Val
ENST00000620121.4:c.3212C>T	ENSP00000481978.1:p.Ala1071Val
NM_015338.5:c.3212C>T , LRG_630t1:c.3212C>T	NP_056153.2:p.Ala1071Val
XM_006723727.2:c.3209C>T	XP_006723790.1:p.Ala1070Val
XM_006723728.2:c.3182C>T	XP_006723791.1:p.Ala1061Val
XM_006723730.2:c.3128C>T	XP_006723793.1:p.Ala1043Val
XM_006723732.2:c.3029C>T	XP_006723795.1:p.Ala1010Val
XM_006723733.1:c.2528C>T	XP_006723796.1:p.Ala843Val
XM_011528647.1:c.3476C>T	XP_011526949.1:p.Ala1159Val
XM_011528648.1:c.3473C>T	XP_011526950.1:p.Ala1158Val
XM_011528649.1:c.3392C>T	XP_011526951.1:p.Ala1131Val
XM_011528650.1:c.3323C>T	XP_011526952.1:p.Ala1108Val
XM_011528651.1:c.3191C>T	XP_011526953.1:p.Ala1064Val
XM_011528652.1:c.3128C>T	XP_011526954.1:p.Ala1043Val
NM_001363734.1:c.3029C>T	NP_001350663.1:p.Ala1010Val
XM_006723727.3:c.3209C>T	XP_006723790.1:p.Ala1070Val
XM_006723728.3:c.3182C>T	XP_006723791.1:p.Ala1061Val
XM_006723730.4:c.3128C>T	XP_006723793.1:p.Ala1043Val
XM_011528648.3:c.3473C>T	XP_011526950.1:p.Ala1158Val
XM_011528652.2:c.3128C>T	XP_011526954.1:p.Ala1043Val
XM_017027704.1:c.3128C>T	XP_016883193.1:p.Ala1043Val
XM_017027705.1:c.3128C>T	XP_016883194.1:p.Ala1043Val
XM_017027706.1:c.3059C>T	XP_016883195.1:p.Ala1020Val
NM_015338.6:c.3212C>T MANE Select	NP_056153.2:p.Ala1071Val