Canonical Allele Identifier: CA408562666

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31023767T>A (hg19) ; chr20:g.32435964T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435964T>A , CM000682.2:g.32435964T>A	GRCh38
NC_000020.10:g.31023767T>A , CM000682.1:g.31023767T>A	GRCh37
NC_000020.9:g.30487428T>A	NCBI36
NG_027868.1:g.82621T>A , LRG_630:g.82621T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3252T>A MANE Select	ENSP00000364839.4:p.Ser1084Arg
ENST00000646985.1:c.3069T>A	ENSP00000495053.1:p.Ser1023Arg
ENST00000647223.1:n.5605T>A
ENST00000651418.1:c.1869+1383T>A	ENSP00000499150.1:n.1869+1383T>A
ENST00000306058.9:c.3237T>A	ENSP00000305119.5:p.Ser1079Arg
ENST00000375687.8:c.3252T>A	ENSP00000364839.4:p.Ser1084Arg
ENST00000613218.4:c.3252T>A	ENSP00000480487.1:p.Ser1084Arg
ENST00000620121.4:c.3252T>A	ENSP00000481978.1:p.Ser1084Arg
NM_015338.5:c.3252T>A , LRG_630t1:c.3252T>A	NP_056153.2:p.Ser1084Arg
XM_006723727.2:c.3249T>A	XP_006723790.1:p.Ser1083Arg
XM_006723728.2:c.3222T>A	XP_006723791.1:p.Ser1074Arg
XM_006723730.2:c.3168T>A	XP_006723793.1:p.Ser1056Arg
XM_006723732.2:c.3069T>A	XP_006723795.1:p.Ser1023Arg
XM_006723733.1:c.2568T>A	XP_006723796.1:p.Ser856Arg
XM_011528647.1:c.3516T>A	XP_011526949.1:p.Ser1172Arg
XM_011528648.1:c.3513T>A	XP_011526950.1:p.Ser1171Arg
XM_011528649.1:c.3432T>A	XP_011526951.1:p.Ser1144Arg
XM_011528650.1:c.3363T>A	XP_011526952.1:p.Ser1121Arg
XM_011528651.1:c.3231T>A	XP_011526953.1:p.Ser1077Arg
XM_011528652.1:c.3168T>A	XP_011526954.1:p.Ser1056Arg
NM_001363734.1:c.3069T>A	NP_001350663.1:p.Ser1023Arg
XM_006723727.3:c.3249T>A	XP_006723790.1:p.Ser1083Arg
XM_006723728.3:c.3222T>A	XP_006723791.1:p.Ser1074Arg
XM_006723730.4:c.3168T>A	XP_006723793.1:p.Ser1056Arg
XM_011528648.3:c.3513T>A	XP_011526950.1:p.Ser1171Arg
XM_011528652.2:c.3168T>A	XP_011526954.1:p.Ser1056Arg
XM_017027704.1:c.3168T>A	XP_016883193.1:p.Ser1056Arg
XM_017027705.1:c.3168T>A	XP_016883194.1:p.Ser1056Arg
XM_017027706.1:c.3099T>A	XP_016883195.1:p.Ser1033Arg
NM_015338.6:c.3252T>A MANE Select	NP_056153.2:p.Ser1084Arg