Canonical Allele Identifier: CA408564392

Gene: ASXL1

Linked Data

• COSMIC: COSM6221197 ; COSM6221198
• MyVariant Identifiers: chr20:g.31024592G>T (hg19) ; chr20:g.32436789G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436789G>T , CM000682.2:g.32436789G>T	GRCh38
NC_000020.10:g.31024592G>T , CM000682.1:g.31024592G>T	GRCh37
NC_000020.9:g.30488253G>T	NCBI36
NG_027868.1:g.83446G>T , LRG_630:g.83446G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4077G>T MANE Select	ENSP00000364839.4:p.Lys1359Asn
ENST00000646985.1:c.3894G>T	ENSP00000495053.1:p.Lys1298Asn
ENST00000647223.1:n.6430G>T
ENST00000651418.1:c.1870-1641G>T	ENSP00000499150.1:n.1870-1641G>T
ENST00000306058.9:c.4062G>T	ENSP00000305119.5:p.Lys1354Asn
ENST00000375687.8:c.4077G>T	ENSP00000364839.4:p.Lys1359Asn
ENST00000613218.4:c.4077G>T	ENSP00000480487.1:p.Lys1359Asn
ENST00000620121.4:c.4077G>T	ENSP00000481978.1:p.Lys1359Asn
NM_015338.5:c.4077G>T , LRG_630t1:c.4077G>T	NP_056153.2:p.Lys1359Asn
XM_006723727.2:c.4074G>T	XP_006723790.1:p.Lys1358Asn
XM_006723728.2:c.4047G>T	XP_006723791.1:p.Lys1349Asn
XM_006723730.2:c.3993G>T	XP_006723793.1:p.Lys1331Asn
XM_006723732.2:c.3894G>T	XP_006723795.1:p.Lys1298Asn
XM_006723733.1:c.3393G>T	XP_006723796.1:p.Lys1131Asn
XM_011528647.1:c.4341G>T	XP_011526949.1:p.Lys1447Asn
XM_011528648.1:c.4338G>T	XP_011526950.1:p.Lys1446Asn
XM_011528649.1:c.4257G>T	XP_011526951.1:p.Lys1419Asn
XM_011528650.1:c.4188G>T	XP_011526952.1:p.Lys1396Asn
XM_011528651.1:c.4056G>T	XP_011526953.1:p.Lys1352Asn
XM_011528652.1:c.3993G>T	XP_011526954.1:p.Lys1331Asn
NM_001363734.1:c.3894G>T	NP_001350663.1:p.Lys1298Asn
XM_006723727.3:c.4074G>T	XP_006723790.1:p.Lys1358Asn
XM_006723728.3:c.4047G>T	XP_006723791.1:p.Lys1349Asn
XM_006723730.4:c.3993G>T	XP_006723793.1:p.Lys1331Asn
XM_011528648.3:c.4338G>T	XP_011526950.1:p.Lys1446Asn
XM_011528652.2:c.3993G>T	XP_011526954.1:p.Lys1331Asn
XM_017027704.1:c.3993G>T	XP_016883193.1:p.Lys1331Asn
XM_017027705.1:c.3993G>T	XP_016883194.1:p.Lys1331Asn
XM_017027706.1:c.3924G>T	XP_016883195.1:p.Lys1308Asn
NM_015338.6:c.4077G>T MANE Select	NP_056153.2:p.Lys1359Asn