Canonical Allele Identifier: CA408562583

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31023725T>G (hg19) ; chr20:g.32435922T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435922T>G , CM000682.2:g.32435922T>G	GRCh38
NC_000020.10:g.31023725T>G , CM000682.1:g.31023725T>G	GRCh37
NC_000020.9:g.30487386T>G	NCBI36
NG_027868.1:g.82579T>G , LRG_630:g.82579T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3210T>G MANE Select	ENSP00000364839.4:p.Cys1070Trp
ENST00000646985.1:c.3027T>G	ENSP00000495053.1:p.Cys1009Trp
ENST00000647223.1:n.5563T>G
ENST00000651418.1:c.1869+1341T>G	ENSP00000499150.1:n.1869+1341T>G
ENST00000306058.9:c.3195T>G	ENSP00000305119.5:p.Cys1065Trp
ENST00000375687.8:c.3210T>G	ENSP00000364839.4:p.Cys1070Trp
ENST00000613218.4:c.3210T>G	ENSP00000480487.1:p.Cys1070Trp
ENST00000620121.4:c.3210T>G	ENSP00000481978.1:p.Cys1070Trp
NM_015338.5:c.3210T>G , LRG_630t1:c.3210T>G	NP_056153.2:p.Cys1070Trp
XM_006723727.2:c.3207T>G	XP_006723790.1:p.Cys1069Trp
XM_006723728.2:c.3180T>G	XP_006723791.1:p.Cys1060Trp
XM_006723730.2:c.3126T>G	XP_006723793.1:p.Cys1042Trp
XM_006723732.2:c.3027T>G	XP_006723795.1:p.Cys1009Trp
XM_006723733.1:c.2526T>G	XP_006723796.1:p.Cys842Trp
XM_011528647.1:c.3474T>G	XP_011526949.1:p.Cys1158Trp
XM_011528648.1:c.3471T>G	XP_011526950.1:p.Cys1157Trp
XM_011528649.1:c.3390T>G	XP_011526951.1:p.Cys1130Trp
XM_011528650.1:c.3321T>G	XP_011526952.1:p.Cys1107Trp
XM_011528651.1:c.3189T>G	XP_011526953.1:p.Cys1063Trp
XM_011528652.1:c.3126T>G	XP_011526954.1:p.Cys1042Trp
NM_001363734.1:c.3027T>G	NP_001350663.1:p.Cys1009Trp
XM_006723727.3:c.3207T>G	XP_006723790.1:p.Cys1069Trp
XM_006723728.3:c.3180T>G	XP_006723791.1:p.Cys1060Trp
XM_006723730.4:c.3126T>G	XP_006723793.1:p.Cys1042Trp
XM_011528648.3:c.3471T>G	XP_011526950.1:p.Cys1157Trp
XM_011528652.2:c.3126T>G	XP_011526954.1:p.Cys1042Trp
XM_017027704.1:c.3126T>G	XP_016883193.1:p.Cys1042Trp
XM_017027705.1:c.3126T>G	XP_016883194.1:p.Cys1042Trp
XM_017027706.1:c.3057T>G	XP_016883195.1:p.Cys1019Trp
NM_015338.6:c.3210T>G MANE Select	NP_056153.2:p.Cys1070Trp