Canonical Allele Identifier: CA408562626

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31023747G>A (hg19) ; chr20:g.32435944G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435944G>A , CM000682.2:g.32435944G>A	GRCh38
NC_000020.10:g.31023747G>A , CM000682.1:g.31023747G>A	GRCh37
NC_000020.9:g.30487408G>A	NCBI36
NG_027868.1:g.82601G>A , LRG_630:g.82601G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3232G>A MANE Select	ENSP00000364839.4:p.Asp1078Asn
ENST00000646985.1:c.3049G>A	ENSP00000495053.1:p.Asp1017Asn
ENST00000647223.1:n.5585G>A
ENST00000651418.1:c.1869+1363G>A	ENSP00000499150.1:n.1869+1363G>A
ENST00000306058.9:c.3217G>A	ENSP00000305119.5:p.Asp1073Asn
ENST00000375687.8:c.3232G>A	ENSP00000364839.4:p.Asp1078Asn
ENST00000613218.4:c.3232G>A	ENSP00000480487.1:p.Asp1078Asn
ENST00000620121.4:c.3232G>A	ENSP00000481978.1:p.Asp1078Asn
NM_015338.5:c.3232G>A , LRG_630t1:c.3232G>A	NP_056153.2:p.Asp1078Asn
XM_006723727.2:c.3229G>A	XP_006723790.1:p.Asp1077Asn
XM_006723728.2:c.3202G>A	XP_006723791.1:p.Asp1068Asn
XM_006723730.2:c.3148G>A	XP_006723793.1:p.Asp1050Asn
XM_006723732.2:c.3049G>A	XP_006723795.1:p.Asp1017Asn
XM_006723733.1:c.2548G>A	XP_006723796.1:p.Asp850Asn
XM_011528647.1:c.3496G>A	XP_011526949.1:p.Asp1166Asn
XM_011528648.1:c.3493G>A	XP_011526950.1:p.Asp1165Asn
XM_011528649.1:c.3412G>A	XP_011526951.1:p.Asp1138Asn
XM_011528650.1:c.3343G>A	XP_011526952.1:p.Asp1115Asn
XM_011528651.1:c.3211G>A	XP_011526953.1:p.Asp1071Asn
XM_011528652.1:c.3148G>A	XP_011526954.1:p.Asp1050Asn
NM_001363734.1:c.3049G>A	NP_001350663.1:p.Asp1017Asn
XM_006723727.3:c.3229G>A	XP_006723790.1:p.Asp1077Asn
XM_006723728.3:c.3202G>A	XP_006723791.1:p.Asp1068Asn
XM_006723730.4:c.3148G>A	XP_006723793.1:p.Asp1050Asn
XM_011528648.3:c.3493G>A	XP_011526950.1:p.Asp1165Asn
XM_011528652.2:c.3148G>A	XP_011526954.1:p.Asp1050Asn
XM_017027704.1:c.3148G>A	XP_016883193.1:p.Asp1050Asn
XM_017027705.1:c.3148G>A	XP_016883194.1:p.Asp1050Asn
XM_017027706.1:c.3079G>A	XP_016883195.1:p.Asp1027Asn
NM_015338.6:c.3232G>A MANE Select	NP_056153.2:p.Asp1078Asn