Canonical Allele Identifier: CA408562530

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31023700C>A (hg19) ; chr20:g.32435897C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435897C>A , CM000682.2:g.32435897C>A	GRCh38
NC_000020.10:g.31023700C>A , CM000682.1:g.31023700C>A	GRCh37
NC_000020.9:g.30487361C>A	NCBI36
NG_027868.1:g.82554C>A , LRG_630:g.82554C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3185C>A MANE Select	ENSP00000364839.4:p.Pro1062His
ENST00000646985.1:c.3002C>A	ENSP00000495053.1:p.Pro1001His
ENST00000647223.1:n.5538C>A
ENST00000651418.1:c.1869+1316C>A	ENSP00000499150.1:n.1869+1316C>A
ENST00000306058.9:c.3170C>A	ENSP00000305119.5:p.Pro1057His
ENST00000375687.8:c.3185C>A	ENSP00000364839.4:p.Pro1062His
ENST00000613218.4:c.3185C>A	ENSP00000480487.1:p.Pro1062His
ENST00000620121.4:c.3185C>A	ENSP00000481978.1:p.Pro1062His
NM_015338.5:c.3185C>A , LRG_630t1:c.3185C>A	NP_056153.2:p.Pro1062His
XM_006723727.2:c.3182C>A	XP_006723790.1:p.Pro1061His
XM_006723728.2:c.3155C>A	XP_006723791.1:p.Pro1052His
XM_006723730.2:c.3101C>A	XP_006723793.1:p.Pro1034His
XM_006723732.2:c.3002C>A	XP_006723795.1:p.Pro1001His
XM_006723733.1:c.2501C>A	XP_006723796.1:p.Pro834His
XM_011528647.1:c.3449C>A	XP_011526949.1:p.Pro1150His
XM_011528648.1:c.3446C>A	XP_011526950.1:p.Pro1149His
XM_011528649.1:c.3365C>A	XP_011526951.1:p.Pro1122His
XM_011528650.1:c.3296C>A	XP_011526952.1:p.Pro1099His
XM_011528651.1:c.3164C>A	XP_011526953.1:p.Pro1055His
XM_011528652.1:c.3101C>A	XP_011526954.1:p.Pro1034His
NM_001363734.1:c.3002C>A	NP_001350663.1:p.Pro1001His
XM_006723727.3:c.3182C>A	XP_006723790.1:p.Pro1061His
XM_006723728.3:c.3155C>A	XP_006723791.1:p.Pro1052His
XM_006723730.4:c.3101C>A	XP_006723793.1:p.Pro1034His
XM_011528648.3:c.3446C>A	XP_011526950.1:p.Pro1149His
XM_011528652.2:c.3101C>A	XP_011526954.1:p.Pro1034His
XM_017027704.1:c.3101C>A	XP_016883193.1:p.Pro1034His
XM_017027705.1:c.3101C>A	XP_016883194.1:p.Pro1034His
XM_017027706.1:c.3032C>A	XP_016883195.1:p.Pro1011His
NM_015338.6:c.3185C>A MANE Select	NP_056153.2:p.Pro1062His