Canonical Allele Identifier: CA510467579

Gene: ASXL1

Linked Data

• dbSNP Id: rs1413624129
• gnomAD v2: 20-31024527-T-C
• gnomAD v4: 20-32436724-T-C
• MyVariant Identifiers: chr20:g.31024527T>C (hg19) ; chr20:g.32436724T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436724T>C , CM000682.2:g.32436724T>C	GRCh38
NC_000020.10:g.31024527T>C , CM000682.1:g.31024527T>C	GRCh37
NC_000020.9:g.30488188T>C	NCBI36
NG_027868.1:g.83381T>C , LRG_630:g.83381T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4012T>C MANE Select	ENSP00000364839.4:p.Leu1338=
ENST00000646985.1:c.3829T>C	ENSP00000495053.1:p.Leu1277=
ENST00000647223.1:n.6365T>C
ENST00000651418.1:c.1870-1706T>C	ENSP00000499150.1:n.1870-1706T>C
ENST00000306058.9:c.3997T>C	ENSP00000305119.5:p.Leu1333=
ENST00000375687.8:c.4012T>C	ENSP00000364839.4:p.Leu1338=
ENST00000613218.4:c.4012T>C	ENSP00000480487.1:p.Leu1338=
ENST00000620121.4:c.4012T>C	ENSP00000481978.1:p.Leu1338=
NM_015338.5:c.4012T>C , LRG_630t1:c.4012T>C	NP_056153.2:p.Leu1338=
XM_006723727.2:c.4009T>C	XP_006723790.1:p.Leu1337=
XM_006723728.2:c.3982T>C	XP_006723791.1:p.Leu1328=
XM_006723730.2:c.3928T>C	XP_006723793.1:p.Leu1310=
XM_006723732.2:c.3829T>C	XP_006723795.1:p.Leu1277=
XM_006723733.1:c.3328T>C	XP_006723796.1:p.Leu1110=
XM_011528647.1:c.4276T>C	XP_011526949.1:p.Leu1426=
XM_011528648.1:c.4273T>C	XP_011526950.1:p.Leu1425=
XM_011528649.1:c.4192T>C	XP_011526951.1:p.Leu1398=
XM_011528650.1:c.4123T>C	XP_011526952.1:p.Leu1375=
XM_011528651.1:c.3991T>C	XP_011526953.1:p.Leu1331=
XM_011528652.1:c.3928T>C	XP_011526954.1:p.Leu1310=
NM_001363734.1:c.3829T>C	NP_001350663.1:p.Leu1277=
XM_006723727.3:c.4009T>C	XP_006723790.1:p.Leu1337=
XM_006723728.3:c.3982T>C	XP_006723791.1:p.Leu1328=
XM_006723730.4:c.3928T>C	XP_006723793.1:p.Leu1310=
XM_011528648.3:c.4273T>C	XP_011526950.1:p.Leu1425=
XM_011528652.2:c.3928T>C	XP_011526954.1:p.Leu1310=
XM_017027704.1:c.3928T>C	XP_016883193.1:p.Leu1310=
XM_017027705.1:c.3928T>C	XP_016883194.1:p.Leu1310=
XM_017027706.1:c.3859T>C	XP_016883195.1:p.Leu1287=
NM_015338.6:c.4012T>C MANE Select	NP_056153.2:p.Leu1338=