Canonical Allele Identifier: CA408562546

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32435904-C-A
• MyVariant Identifiers: chr20:g.31023707C>A (hg19) ; chr20:g.32435904C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435904C>A , CM000682.2:g.32435904C>A	GRCh38
NC_000020.10:g.31023707C>A , CM000682.1:g.31023707C>A	GRCh37
NC_000020.9:g.30487368C>A	NCBI36
NG_027868.1:g.82561C>A , LRG_630:g.82561C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3192C>A MANE Select	ENSP00000364839.4:p.Ser1064Arg
ENST00000646985.1:c.3009C>A	ENSP00000495053.1:p.Ser1003Arg
ENST00000647223.1:n.5545C>A
ENST00000651418.1:c.1869+1323C>A	ENSP00000499150.1:n.1869+1323C>A
ENST00000306058.9:c.3177C>A	ENSP00000305119.5:p.Ser1059Arg
ENST00000375687.8:c.3192C>A	ENSP00000364839.4:p.Ser1064Arg
ENST00000613218.4:c.3192C>A	ENSP00000480487.1:p.Ser1064Arg
ENST00000620121.4:c.3192C>A	ENSP00000481978.1:p.Ser1064Arg
NM_015338.5:c.3192C>A , LRG_630t1:c.3192C>A	NP_056153.2:p.Ser1064Arg
XM_006723727.2:c.3189C>A	XP_006723790.1:p.Ser1063Arg
XM_006723728.2:c.3162C>A	XP_006723791.1:p.Ser1054Arg
XM_006723730.2:c.3108C>A	XP_006723793.1:p.Ser1036Arg
XM_006723732.2:c.3009C>A	XP_006723795.1:p.Ser1003Arg
XM_006723733.1:c.2508C>A	XP_006723796.1:p.Ser836Arg
XM_011528647.1:c.3456C>A	XP_011526949.1:p.Ser1152Arg
XM_011528648.1:c.3453C>A	XP_011526950.1:p.Ser1151Arg
XM_011528649.1:c.3372C>A	XP_011526951.1:p.Ser1124Arg
XM_011528650.1:c.3303C>A	XP_011526952.1:p.Ser1101Arg
XM_011528651.1:c.3171C>A	XP_011526953.1:p.Ser1057Arg
XM_011528652.1:c.3108C>A	XP_011526954.1:p.Ser1036Arg
NM_001363734.1:c.3009C>A	NP_001350663.1:p.Ser1003Arg
XM_006723727.3:c.3189C>A	XP_006723790.1:p.Ser1063Arg
XM_006723728.3:c.3162C>A	XP_006723791.1:p.Ser1054Arg
XM_006723730.4:c.3108C>A	XP_006723793.1:p.Ser1036Arg
XM_011528648.3:c.3453C>A	XP_011526950.1:p.Ser1151Arg
XM_011528652.2:c.3108C>A	XP_011526954.1:p.Ser1036Arg
XM_017027704.1:c.3108C>A	XP_016883193.1:p.Ser1036Arg
XM_017027705.1:c.3108C>A	XP_016883194.1:p.Ser1036Arg
XM_017027706.1:c.3039C>A	XP_016883195.1:p.Ser1013Arg
NM_015338.6:c.3192C>A MANE Select	NP_056153.2:p.Ser1064Arg