Canonical Allele Identifier: CA408563494

Gene: ASXL1

Linked Data

• dbSNP Id: rs2145385062
• MyVariant Identifiers: chr20:g.31024158C>G (hg19) ; chr20:g.32436355C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436355C>G , CM000682.2:g.32436355C>G	GRCh38
NC_000020.10:g.31024158C>G , CM000682.1:g.31024158C>G	GRCh37
NC_000020.9:g.30487819C>G	NCBI36
NG_027868.1:g.83012C>G , LRG_630:g.83012C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375687.10:c.3643C>G MANE Select	ENSP00000364839.4:p.Pro1215Ala
ENST00000646985.1:c.3460C>G	ENSP00000495053.1:p.Pro1154Ala
ENST00000647223.1:n.5996C>G
ENST00000651418.1:c.1869+1774C>G	ENSP00000499150.1:n.1869+1774C>G
ENST00000306058.9:c.3628C>G	ENSP00000305119.5:p.Pro1210Ala
ENST00000375687.8:c.3643C>G	ENSP00000364839.4:p.Pro1215Ala
ENST00000613218.4:c.3643C>G	ENSP00000480487.1:p.Pro1215Ala
ENST00000620121.4:c.3643C>G	ENSP00000481978.1:p.Pro1215Ala
NM_015338.5:c.3643C>G , LRG_630t1:c.3643C>G	NP_056153.2:p.Pro1215Ala
XM_006723727.2:c.3640C>G	XP_006723790.1:p.Pro1214Ala
XM_006723728.2:c.3613C>G	XP_006723791.1:p.Pro1205Ala
XM_006723730.2:c.3559C>G	XP_006723793.1:p.Pro1187Ala
XM_006723732.2:c.3460C>G	XP_006723795.1:p.Pro1154Ala
XM_006723733.1:c.2959C>G	XP_006723796.1:p.Pro987Ala
XM_011528647.1:c.3907C>G	XP_011526949.1:p.Pro1303Ala
XM_011528648.1:c.3904C>G	XP_011526950.1:p.Pro1302Ala
XM_011528649.1:c.3823C>G	XP_011526951.1:p.Pro1275Ala
XM_011528650.1:c.3754C>G	XP_011526952.1:p.Pro1252Ala
XM_011528651.1:c.3622C>G	XP_011526953.1:p.Pro1208Ala
XM_011528652.1:c.3559C>G	XP_011526954.1:p.Pro1187Ala
NM_001363734.1:c.3460C>G	NP_001350663.1:p.Pro1154Ala
XM_006723727.3:c.3640C>G	XP_006723790.1:p.Pro1214Ala
XM_006723728.3:c.3613C>G	XP_006723791.1:p.Pro1205Ala
XM_006723730.4:c.3559C>G	XP_006723793.1:p.Pro1187Ala
XM_011528648.3:c.3904C>G	XP_011526950.1:p.Pro1302Ala
XM_011528652.2:c.3559C>G	XP_011526954.1:p.Pro1187Ala
XM_017027704.1:c.3559C>G	XP_016883193.1:p.Pro1187Ala
XM_017027705.1:c.3559C>G	XP_016883194.1:p.Pro1187Ala
XM_017027706.1:c.3490C>G	XP_016883195.1:p.Pro1164Ala
NM_015338.6:c.3643C>G MANE Select	NP_056153.2:p.Pro1215Ala