Canonical Allele Identifier: CA9808963

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 338117
• ClinVar RCV Id: RCV000899982 ; RCV004549776 ; RCV002259907
• dbSNP Id: rs143041800
• ExAC: 20:31024613 C / T
• gnomAD v2: 20-31024613-C-T
• gnomAD v3: 20-32436810-C-T
• gnomAD v4: 20-32436810-C-T
• MyVariant Identifiers: chr20:g.31024613C>T (hg19) ; chr20:g.32436810C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436810C>T , CM000682.2:g.32436810C>T	GRCh38
NC_000020.10:g.31024613C>T , CM000682.1:g.31024613C>T	GRCh37
NC_000020.9:g.30488274C>T	NCBI36
NG_027868.1:g.83467C>T , LRG_630:g.83467C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4098C>T MANE Select	ENSP00000364839.4:p.Ser1366=
ENST00000646985.1:c.3915C>T	ENSP00000495053.1:p.Ser1305=
ENST00000647223.1:n.6451C>T
ENST00000651418.1:c.1870-1620C>T	ENSP00000499150.1:n.1870-1620C>T
ENST00000306058.9:c.4083C>T	ENSP00000305119.5:p.Ser1361=
ENST00000375687.8:c.4098C>T	ENSP00000364839.4:p.Ser1366=
ENST00000613218.4:c.4098C>T	ENSP00000480487.1:p.Ser1366=
ENST00000620121.4:c.4098C>T	ENSP00000481978.1:p.Ser1366=
NM_015338.5:c.4098C>T , LRG_630t1:c.4098C>T	NP_056153.2:p.Ser1366=
XM_006723727.2:c.4095C>T	XP_006723790.1:p.Ser1365=
XM_006723728.2:c.4068C>T	XP_006723791.1:p.Ser1356=
XM_006723730.2:c.4014C>T	XP_006723793.1:p.Ser1338=
XM_006723732.2:c.3915C>T	XP_006723795.1:p.Ser1305=
XM_006723733.1:c.3414C>T	XP_006723796.1:p.Ser1138=
XM_011528647.1:c.4362C>T	XP_011526949.1:p.Ser1454=
XM_011528648.1:c.4359C>T	XP_011526950.1:p.Ser1453=
XM_011528649.1:c.4278C>T	XP_011526951.1:p.Ser1426=
XM_011528650.1:c.4209C>T	XP_011526952.1:p.Ser1403=
XM_011528651.1:c.4077C>T	XP_011526953.1:p.Ser1359=
XM_011528652.1:c.4014C>T	XP_011526954.1:p.Ser1338=
NM_001363734.1:c.3915C>T	NP_001350663.1:p.Ser1305=
XM_006723727.3:c.4095C>T	XP_006723790.1:p.Ser1365=
XM_006723728.3:c.4068C>T	XP_006723791.1:p.Ser1356=
XM_006723730.4:c.4014C>T	XP_006723793.1:p.Ser1338=
XM_011528648.3:c.4359C>T	XP_011526950.1:p.Ser1453=
XM_011528652.2:c.4014C>T	XP_011526954.1:p.Ser1338=
XM_017027704.1:c.4014C>T	XP_016883193.1:p.Ser1338=
XM_017027705.1:c.4014C>T	XP_016883194.1:p.Ser1338=
XM_017027706.1:c.3945C>T	XP_016883195.1:p.Ser1315=
NM_015338.6:c.4098C>T MANE Select	NP_056153.2:p.Ser1366=