Canonical Allele Identifier: CA408564337

Gene: ASXL1

Linked Data

• dbSNP Id: rs2011923988
• MyVariant Identifiers: chr20:g.31024567C>T (hg19) ; chr20:g.32436764C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436764C>T , CM000682.2:g.32436764C>T	GRCh38
NC_000020.10:g.31024567C>T , CM000682.1:g.31024567C>T	GRCh37
NC_000020.9:g.30488228C>T	NCBI36
NG_027868.1:g.83421C>T , LRG_630:g.83421C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4052C>T MANE Select	ENSP00000364839.4:p.Thr1351Ile
ENST00000646985.1:c.3869C>T	ENSP00000495053.1:p.Thr1290Ile
ENST00000647223.1:n.6405C>T
ENST00000651418.1:c.1870-1666C>T	ENSP00000499150.1:n.1870-1666C>T
ENST00000306058.9:c.4037C>T	ENSP00000305119.5:p.Thr1346Ile
ENST00000375687.8:c.4052C>T	ENSP00000364839.4:p.Thr1351Ile
ENST00000613218.4:c.4052C>T	ENSP00000480487.1:p.Thr1351Ile
ENST00000620121.4:c.4052C>T	ENSP00000481978.1:p.Thr1351Ile
NM_015338.5:c.4052C>T , LRG_630t1:c.4052C>T	NP_056153.2:p.Thr1351Ile
XM_006723727.2:c.4049C>T	XP_006723790.1:p.Thr1350Ile
XM_006723728.2:c.4022C>T	XP_006723791.1:p.Thr1341Ile
XM_006723730.2:c.3968C>T	XP_006723793.1:p.Thr1323Ile
XM_006723732.2:c.3869C>T	XP_006723795.1:p.Thr1290Ile
XM_006723733.1:c.3368C>T	XP_006723796.1:p.Thr1123Ile
XM_011528647.1:c.4316C>T	XP_011526949.1:p.Thr1439Ile
XM_011528648.1:c.4313C>T	XP_011526950.1:p.Thr1438Ile
XM_011528649.1:c.4232C>T	XP_011526951.1:p.Thr1411Ile
XM_011528650.1:c.4163C>T	XP_011526952.1:p.Thr1388Ile
XM_011528651.1:c.4031C>T	XP_011526953.1:p.Thr1344Ile
XM_011528652.1:c.3968C>T	XP_011526954.1:p.Thr1323Ile
NM_001363734.1:c.3869C>T	NP_001350663.1:p.Thr1290Ile
XM_006723727.3:c.4049C>T	XP_006723790.1:p.Thr1350Ile
XM_006723728.3:c.4022C>T	XP_006723791.1:p.Thr1341Ile
XM_006723730.4:c.3968C>T	XP_006723793.1:p.Thr1323Ile
XM_011528648.3:c.4313C>T	XP_011526950.1:p.Thr1438Ile
XM_011528652.2:c.3968C>T	XP_011526954.1:p.Thr1323Ile
XM_017027704.1:c.3968C>T	XP_016883193.1:p.Thr1323Ile
XM_017027705.1:c.3968C>T	XP_016883194.1:p.Thr1323Ile
XM_017027706.1:c.3899C>T	XP_016883195.1:p.Thr1300Ile
NM_015338.6:c.4052C>T MANE Select	NP_056153.2:p.Thr1351Ile