Canonical Allele Identifier: CA9808954

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 976125
• ClinVar RCV Id: RCV001253324
• dbSNP Id: rs763386297
• ExAC: 20:31024563 C / T
• gnomAD v2: 20-31024563-C-T
• gnomAD v4: 20-32436760-C-T
• COSMIC: COSM4169895 ; COSM4169896
• MyVariant Identifiers: chr20:g.31024563C>T (hg19) ; chr20:g.32436760C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436760C>T , CM000682.2:g.32436760C>T	GRCh38
NC_000020.10:g.31024563C>T , CM000682.1:g.31024563C>T	GRCh37
NC_000020.9:g.30488224C>T	NCBI36
NG_027868.1:g.83417C>T , LRG_630:g.83417C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4048C>T MANE Select	ENSP00000364839.4:p.Gln1350Ter
ENST00000646985.1:c.3865C>T	ENSP00000495053.1:p.Gln1289Ter
ENST00000647223.1:n.6401C>T
ENST00000651418.1:c.1870-1670C>T	ENSP00000499150.1:n.1870-1670C>T
ENST00000306058.9:c.4033C>T	ENSP00000305119.5:p.Gln1345Ter
ENST00000375687.8:c.4048C>T	ENSP00000364839.4:p.Gln1350Ter
ENST00000613218.4:c.4048C>T	ENSP00000480487.1:p.Gln1350Ter
ENST00000620121.4:c.4048C>T	ENSP00000481978.1:p.Gln1350Ter
NM_015338.5:c.4048C>T , LRG_630t1:c.4048C>T	NP_056153.2:p.Gln1350Ter
XM_006723727.2:c.4045C>T	XP_006723790.1:p.Gln1349Ter
XM_006723728.2:c.4018C>T	XP_006723791.1:p.Gln1340Ter
XM_006723730.2:c.3964C>T	XP_006723793.1:p.Gln1322Ter
XM_006723732.2:c.3865C>T	XP_006723795.1:p.Gln1289Ter
XM_006723733.1:c.3364C>T	XP_006723796.1:p.Gln1122Ter
XM_011528647.1:c.4312C>T	XP_011526949.1:p.Gln1438Ter
XM_011528648.1:c.4309C>T	XP_011526950.1:p.Gln1437Ter
XM_011528649.1:c.4228C>T	XP_011526951.1:p.Gln1410Ter
XM_011528650.1:c.4159C>T	XP_011526952.1:p.Gln1387Ter
XM_011528651.1:c.4027C>T	XP_011526953.1:p.Gln1343Ter
XM_011528652.1:c.3964C>T	XP_011526954.1:p.Gln1322Ter
NM_001363734.1:c.3865C>T	NP_001350663.1:p.Gln1289Ter
XM_006723727.3:c.4045C>T	XP_006723790.1:p.Gln1349Ter
XM_006723728.3:c.4018C>T	XP_006723791.1:p.Gln1340Ter
XM_006723730.4:c.3964C>T	XP_006723793.1:p.Gln1322Ter
XM_011528648.3:c.4309C>T	XP_011526950.1:p.Gln1437Ter
XM_011528652.2:c.3964C>T	XP_011526954.1:p.Gln1322Ter
XM_017027704.1:c.3964C>T	XP_016883193.1:p.Gln1322Ter
XM_017027705.1:c.3964C>T	XP_016883194.1:p.Gln1322Ter
XM_017027706.1:c.3895C>T	XP_016883195.1:p.Gln1299Ter
NM_015338.6:c.4048C>T MANE Select	NP_056153.2:p.Gln1350Ter