Canonical Allele Identifier: CA9808897

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 2726573
• ClinVar RCV Id: RCV003556922
• dbSNP Id: rs201338763
• ExAC: 20:31024291 C / T
• gnomAD v2: 20-31024291-C-T
• gnomAD v3: 20-32436488-C-T
• gnomAD v4: 20-32436488-C-T
• COSMIC: COSM6023027
• MyVariant Identifiers: chr20:g.31024291C>T (hg19) ; chr20:g.32436488C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436488C>T , CM000682.2:g.32436488C>T	GRCh38
NC_000020.10:g.31024291C>T , CM000682.1:g.31024291C>T	GRCh37
NC_000020.9:g.30487952C>T	NCBI36
NG_027868.1:g.83145C>T , LRG_630:g.83145C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3776C>T MANE Select	ENSP00000364839.4:p.Pro1259Leu
ENST00000646985.1:c.3593C>T	ENSP00000495053.1:p.Pro1198Leu
ENST00000647223.1:n.6129C>T
ENST00000651418.1:c.1869+1907C>T	ENSP00000499150.1:n.1869+1907C>T
ENST00000306058.9:c.3761C>T	ENSP00000305119.5:p.Pro1254Leu
ENST00000375687.8:c.3776C>T	ENSP00000364839.4:p.Pro1259Leu
ENST00000613218.4:c.3776C>T	ENSP00000480487.1:p.Pro1259Leu
ENST00000620121.4:c.3776C>T	ENSP00000481978.1:p.Pro1259Leu
NM_015338.5:c.3776C>T , LRG_630t1:c.3776C>T	NP_056153.2:p.Pro1259Leu
XM_006723727.2:c.3773C>T	XP_006723790.1:p.Pro1258Leu
XM_006723728.2:c.3746C>T	XP_006723791.1:p.Pro1249Leu
XM_006723730.2:c.3692C>T	XP_006723793.1:p.Pro1231Leu
XM_006723732.2:c.3593C>T	XP_006723795.1:p.Pro1198Leu
XM_006723733.1:c.3092C>T	XP_006723796.1:p.Pro1031Leu
XM_011528647.1:c.4040C>T	XP_011526949.1:p.Pro1347Leu
XM_011528648.1:c.4037C>T	XP_011526950.1:p.Pro1346Leu
XM_011528649.1:c.3956C>T	XP_011526951.1:p.Pro1319Leu
XM_011528650.1:c.3887C>T	XP_011526952.1:p.Pro1296Leu
XM_011528651.1:c.3755C>T	XP_011526953.1:p.Pro1252Leu
XM_011528652.1:c.3692C>T	XP_011526954.1:p.Pro1231Leu
NM_001363734.1:c.3593C>T	NP_001350663.1:p.Pro1198Leu
XM_006723727.3:c.3773C>T	XP_006723790.1:p.Pro1258Leu
XM_006723728.3:c.3746C>T	XP_006723791.1:p.Pro1249Leu
XM_006723730.4:c.3692C>T	XP_006723793.1:p.Pro1231Leu
XM_011528648.3:c.4037C>T	XP_011526950.1:p.Pro1346Leu
XM_011528652.2:c.3692C>T	XP_011526954.1:p.Pro1231Leu
XM_017027704.1:c.3692C>T	XP_016883193.1:p.Pro1231Leu
XM_017027705.1:c.3692C>T	XP_016883194.1:p.Pro1231Leu
XM_017027706.1:c.3623C>T	XP_016883195.1:p.Pro1208Leu
NM_015338.6:c.3776C>T MANE Select	NP_056153.2:p.Pro1259Leu