Canonical Allele Identifier: CA408564015

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31024407A>T (hg19) ; chr20:g.32436604A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436604A>T , CM000682.2:g.32436604A>T	GRCh38
NC_000020.10:g.31024407A>T , CM000682.1:g.31024407A>T	GRCh37
NC_000020.9:g.30488068A>T	NCBI36
NG_027868.1:g.83261A>T , LRG_630:g.83261A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3892A>T MANE Select	ENSP00000364839.4:p.Thr1298Ser
ENST00000646985.1:c.3709A>T	ENSP00000495053.1:p.Thr1237Ser
ENST00000647223.1:n.6245A>T
ENST00000651418.1:c.1870-1826A>T	ENSP00000499150.1:n.1870-1826A>T
ENST00000306058.9:c.3877A>T	ENSP00000305119.5:p.Thr1293Ser
ENST00000375687.8:c.3892A>T	ENSP00000364839.4:p.Thr1298Ser
ENST00000613218.4:c.3892A>T	ENSP00000480487.1:p.Thr1298Ser
ENST00000620121.4:c.3892A>T	ENSP00000481978.1:p.Thr1298Ser
NM_015338.5:c.3892A>T , LRG_630t1:c.3892A>T	NP_056153.2:p.Thr1298Ser
XM_006723727.2:c.3889A>T	XP_006723790.1:p.Thr1297Ser
XM_006723728.2:c.3862A>T	XP_006723791.1:p.Thr1288Ser
XM_006723730.2:c.3808A>T	XP_006723793.1:p.Thr1270Ser
XM_006723732.2:c.3709A>T	XP_006723795.1:p.Thr1237Ser
XM_006723733.1:c.3208A>T	XP_006723796.1:p.Thr1070Ser
XM_011528647.1:c.4156A>T	XP_011526949.1:p.Thr1386Ser
XM_011528648.1:c.4153A>T	XP_011526950.1:p.Thr1385Ser
XM_011528649.1:c.4072A>T	XP_011526951.1:p.Thr1358Ser
XM_011528650.1:c.4003A>T	XP_011526952.1:p.Thr1335Ser
XM_011528651.1:c.3871A>T	XP_011526953.1:p.Thr1291Ser
XM_011528652.1:c.3808A>T	XP_011526954.1:p.Thr1270Ser
NM_001363734.1:c.3709A>T	NP_001350663.1:p.Thr1237Ser
XM_006723727.3:c.3889A>T	XP_006723790.1:p.Thr1297Ser
XM_006723728.3:c.3862A>T	XP_006723791.1:p.Thr1288Ser
XM_006723730.4:c.3808A>T	XP_006723793.1:p.Thr1270Ser
XM_011528648.3:c.4153A>T	XP_011526950.1:p.Thr1385Ser
XM_011528652.2:c.3808A>T	XP_011526954.1:p.Thr1270Ser
XM_017027704.1:c.3808A>T	XP_016883193.1:p.Thr1270Ser
XM_017027705.1:c.3808A>T	XP_016883194.1:p.Thr1270Ser
XM_017027706.1:c.3739A>T	XP_016883195.1:p.Thr1247Ser
NM_015338.6:c.3892A>T MANE Select	NP_056153.2:p.Thr1298Ser