Canonical Allele Identifier: CA408562898

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 2879233
• ClinVar RCV Id: RCV003710588
• gnomAD v4: 20-32436072-G-C
• MyVariant Identifiers: chr20:g.31023875G>C (hg19) ; chr20:g.32436072G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436072G>C , CM000682.2:g.32436072G>C	GRCh38
NC_000020.10:g.31023875G>C , CM000682.1:g.31023875G>C	GRCh37
NC_000020.9:g.30487536G>C	NCBI36
NG_027868.1:g.82729G>C , LRG_630:g.82729G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3360G>C MANE Select	ENSP00000364839.4:p.Lys1120Asn
ENST00000646985.1:c.3177G>C	ENSP00000495053.1:p.Lys1059Asn
ENST00000647223.1:n.5713G>C
ENST00000651418.1:c.1869+1491G>C	ENSP00000499150.1:n.1869+1491G>C
ENST00000306058.9:c.3345G>C	ENSP00000305119.5:p.Lys1115Asn
ENST00000375687.8:c.3360G>C	ENSP00000364839.4:p.Lys1120Asn
ENST00000613218.4:c.3360G>C	ENSP00000480487.1:p.Lys1120Asn
ENST00000620121.4:c.3360G>C	ENSP00000481978.1:p.Lys1120Asn
NM_015338.5:c.3360G>C , LRG_630t1:c.3360G>C	NP_056153.2:p.Lys1120Asn
XM_006723727.2:c.3357G>C	XP_006723790.1:p.Lys1119Asn
XM_006723728.2:c.3330G>C	XP_006723791.1:p.Lys1110Asn
XM_006723730.2:c.3276G>C	XP_006723793.1:p.Lys1092Asn
XM_006723732.2:c.3177G>C	XP_006723795.1:p.Lys1059Asn
XM_006723733.1:c.2676G>C	XP_006723796.1:p.Lys892Asn
XM_011528647.1:c.3624G>C	XP_011526949.1:p.Lys1208Asn
XM_011528648.1:c.3621G>C	XP_011526950.1:p.Lys1207Asn
XM_011528649.1:c.3540G>C	XP_011526951.1:p.Lys1180Asn
XM_011528650.1:c.3471G>C	XP_011526952.1:p.Lys1157Asn
XM_011528651.1:c.3339G>C	XP_011526953.1:p.Lys1113Asn
XM_011528652.1:c.3276G>C	XP_011526954.1:p.Lys1092Asn
NM_001363734.1:c.3177G>C	NP_001350663.1:p.Lys1059Asn
XM_006723727.3:c.3357G>C	XP_006723790.1:p.Lys1119Asn
XM_006723728.3:c.3330G>C	XP_006723791.1:p.Lys1110Asn
XM_006723730.4:c.3276G>C	XP_006723793.1:p.Lys1092Asn
XM_011528648.3:c.3621G>C	XP_011526950.1:p.Lys1207Asn
XM_011528652.2:c.3276G>C	XP_011526954.1:p.Lys1092Asn
XM_017027704.1:c.3276G>C	XP_016883193.1:p.Lys1092Asn
XM_017027705.1:c.3276G>C	XP_016883194.1:p.Lys1092Asn
XM_017027706.1:c.3207G>C	XP_016883195.1:p.Lys1069Asn
NM_015338.6:c.3360G>C MANE Select	NP_056153.2:p.Lys1120Asn