Canonical Allele Identifier: CA408551344

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31015950C>T (hg19) ; chr20:g.32428147C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428147C>T , CM000682.2:g.32428147C>T	GRCh38
NC_000020.10:g.31015950C>T , CM000682.1:g.31015950C>T	GRCh37
NC_000020.9:g.30479611C>T	NCBI36
NG_027868.1:g.74804C>T , LRG_630:g.74804C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.272C>T MANE Select	ENSP00000364839.4:p.Ser91Phe
ENST00000470145.3:n.215C>T
ENST00000643168.1:c.188C>T	ENSP00000495003.1:p.Ser63Phe
ENST00000644060.1:n.1076C>T
ENST00000644587.1:c.*111C>T	ENSP00000494813.1:n.*111C>T
ENST00000645514.1:n.20C>T
ENST00000645688.1:c.188C>T	ENSP00000495488.1:p.Ser63Phe
ENST00000646985.1:c.242C>T	ENSP00000495053.1:p.Ser81Phe
ENST00000651418.1:c.272C>T	ENSP00000499150.1:p.Ser91Phe
ENST00000306058.9:c.257C>T	ENSP00000305119.5:p.Ser86Phe
ENST00000375687.8:c.272C>T	ENSP00000364839.4:p.Ser91Phe
ENST00000470145.2:n.215C>T
ENST00000613218.4:c.272C>T	ENSP00000480487.1:p.Ser91Phe
ENST00000620121.4:c.272C>T	ENSP00000481978.1:p.Ser91Phe
NM_015338.5:c.272C>T , LRG_630t1:c.272C>T	NP_056153.2:p.Ser91Phe
XM_006723727.2:c.269C>T	XP_006723790.1:p.Ser90Phe
XM_006723728.2:c.242C>T	XP_006723791.1:p.Ser81Phe
XM_006723730.2:c.188C>T	XP_006723793.1:p.Ser63Phe
XM_006723732.2:c.242C>T	XP_006723795.1:p.Ser81Phe
XM_011528647.1:c.536C>T	XP_011526949.1:p.Ser179Phe
XM_011528648.1:c.533C>T	XP_011526950.1:p.Ser178Phe
XM_011528649.1:c.452C>T	XP_011526951.1:p.Ser151Phe
XM_011528650.1:c.536C>T	XP_011526952.1:p.Ser179Phe
XM_011528651.1:c.251C>T	XP_011526953.1:p.Ser84Phe
XM_011528652.1:c.188C>T	XP_011526954.1:p.Ser63Phe
NM_001363734.1:c.242C>T	NP_001350663.1:p.Ser81Phe
XM_006723727.3:c.269C>T	XP_006723790.1:p.Ser90Phe
XM_006723728.3:c.242C>T	XP_006723791.1:p.Ser81Phe
XM_006723730.4:c.188C>T	XP_006723793.1:p.Ser63Phe
XM_011528648.3:c.533C>T	XP_011526950.1:p.Ser178Phe
XM_011528652.2:c.188C>T	XP_011526954.1:p.Ser63Phe
XM_017027704.1:c.188C>T	XP_016883193.1:p.Ser63Phe
XM_017027705.1:c.188C>T	XP_016883194.1:p.Ser63Phe
XM_017027706.1:c.272C>T	XP_016883195.1:p.Ser91Phe
NM_015338.6:c.272C>T MANE Select	NP_056153.2:p.Ser91Phe