Canonical Allele Identifier: CA408551907

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31016172T>C (hg19) ; chr20:g.32428369T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428369T>C , CM000682.2:g.32428369T>C	GRCh38
NC_000020.10:g.31016172T>C , CM000682.1:g.31016172T>C	GRCh37
NC_000020.9:g.30479833T>C	NCBI36
NG_027868.1:g.75026T>C , LRG_630:g.75026T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.418T>C MANE Select	ENSP00000364839.4:p.Ser140Pro
ENST00000470145.3:n.437T>C
ENST00000643168.1:c.334T>C	ENSP00000495003.1:p.Ser112Pro
ENST00000644587.1:c.*257T>C	ENSP00000494813.1:n.*257T>C
ENST00000644615.1:n.122T>C
ENST00000645514.1:n.242T>C
ENST00000646985.1:c.388T>C	ENSP00000495053.1:p.Ser130Pro
ENST00000651418.1:c.418T>C	ENSP00000499150.1:p.Ser140Pro
ENST00000306058.9:c.403T>C	ENSP00000305119.5:p.Ser135Pro
ENST00000375687.8:c.418T>C	ENSP00000364839.4:p.Ser140Pro
ENST00000470145.2:n.437T>C
ENST00000613218.4:c.418T>C	ENSP00000480487.1:p.Ser140Pro
ENST00000620121.4:c.418T>C	ENSP00000481978.1:p.Ser140Pro
NM_015338.5:c.418T>C , LRG_630t1:c.418T>C	NP_056153.2:p.Ser140Pro
XM_006723727.2:c.415T>C	XP_006723790.1:p.Ser139Pro
XM_006723728.2:c.388T>C	XP_006723791.1:p.Ser130Pro
XM_006723730.2:c.334T>C	XP_006723793.1:p.Ser112Pro
XM_006723732.2:c.388T>C	XP_006723795.1:p.Ser130Pro
XM_011528647.1:c.682T>C	XP_011526949.1:p.Ser228Pro
XM_011528648.1:c.679T>C	XP_011526950.1:p.Ser227Pro
XM_011528649.1:c.598T>C	XP_011526951.1:p.Ser200Pro
XM_011528650.1:c.682T>C	XP_011526952.1:p.Ser228Pro
XM_011528651.1:c.397T>C	XP_011526953.1:p.Ser133Pro
XM_011528652.1:c.334T>C	XP_011526954.1:p.Ser112Pro
NM_001363734.1:c.388T>C	NP_001350663.1:p.Ser130Pro
XM_006723727.3:c.415T>C	XP_006723790.1:p.Ser139Pro
XM_006723728.3:c.388T>C	XP_006723791.1:p.Ser130Pro
XM_006723730.4:c.334T>C	XP_006723793.1:p.Ser112Pro
XM_011528648.3:c.679T>C	XP_011526950.1:p.Ser227Pro
XM_011528652.2:c.334T>C	XP_011526954.1:p.Ser112Pro
XM_017027704.1:c.334T>C	XP_016883193.1:p.Ser112Pro
XM_017027705.1:c.334T>C	XP_016883194.1:p.Ser112Pro
XM_017027706.1:c.418T>C	XP_016883195.1:p.Ser140Pro
NM_015338.6:c.418T>C MANE Select	NP_056153.2:p.Ser140Pro