Canonical Allele Identifier: CA408564340

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32436766-C-T
• MyVariant Identifiers: chr20:g.31024569C>T (hg19) ; chr20:g.32436766C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436766C>T , CM000682.2:g.32436766C>T	GRCh38
NC_000020.10:g.31024569C>T , CM000682.1:g.31024569C>T	GRCh37
NC_000020.9:g.30488230C>T	NCBI36
NG_027868.1:g.83423C>T , LRG_630:g.83423C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4054C>T MANE Select	ENSP00000364839.4:p.Pro1352Ser
ENST00000646985.1:c.3871C>T	ENSP00000495053.1:p.Pro1291Ser
ENST00000647223.1:n.6407C>T
ENST00000651418.1:c.1870-1664C>T	ENSP00000499150.1:n.1870-1664C>T
ENST00000306058.9:c.4039C>T	ENSP00000305119.5:p.Pro1347Ser
ENST00000375687.8:c.4054C>T	ENSP00000364839.4:p.Pro1352Ser
ENST00000613218.4:c.4054C>T	ENSP00000480487.1:p.Pro1352Ser
ENST00000620121.4:c.4054C>T	ENSP00000481978.1:p.Pro1352Ser
NM_015338.5:c.4054C>T , LRG_630t1:c.4054C>T	NP_056153.2:p.Pro1352Ser
XM_006723727.2:c.4051C>T	XP_006723790.1:p.Pro1351Ser
XM_006723728.2:c.4024C>T	XP_006723791.1:p.Pro1342Ser
XM_006723730.2:c.3970C>T	XP_006723793.1:p.Pro1324Ser
XM_006723732.2:c.3871C>T	XP_006723795.1:p.Pro1291Ser
XM_006723733.1:c.3370C>T	XP_006723796.1:p.Pro1124Ser
XM_011528647.1:c.4318C>T	XP_011526949.1:p.Pro1440Ser
XM_011528648.1:c.4315C>T	XP_011526950.1:p.Pro1439Ser
XM_011528649.1:c.4234C>T	XP_011526951.1:p.Pro1412Ser
XM_011528650.1:c.4165C>T	XP_011526952.1:p.Pro1389Ser
XM_011528651.1:c.4033C>T	XP_011526953.1:p.Pro1345Ser
XM_011528652.1:c.3970C>T	XP_011526954.1:p.Pro1324Ser
NM_001363734.1:c.3871C>T	NP_001350663.1:p.Pro1291Ser
XM_006723727.3:c.4051C>T	XP_006723790.1:p.Pro1351Ser
XM_006723728.3:c.4024C>T	XP_006723791.1:p.Pro1342Ser
XM_006723730.4:c.3970C>T	XP_006723793.1:p.Pro1324Ser
XM_011528648.3:c.4315C>T	XP_011526950.1:p.Pro1439Ser
XM_011528652.2:c.3970C>T	XP_011526954.1:p.Pro1324Ser
XM_017027704.1:c.3970C>T	XP_016883193.1:p.Pro1324Ser
XM_017027705.1:c.3970C>T	XP_016883194.1:p.Pro1324Ser
XM_017027706.1:c.3901C>T	XP_016883195.1:p.Pro1301Ser
NM_015338.6:c.4054C>T MANE Select	NP_056153.2:p.Pro1352Ser