Canonical Allele Identifier: CA408564055

Gene: ASXL1

Linked Data

• COSMIC: COSM3378977 ; COSM3378978
• MyVariant Identifiers: chr20:g.31024426T>A (hg19) ; chr20:g.32436623T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436623T>A , CM000682.2:g.32436623T>A	GRCh38
NC_000020.10:g.31024426T>A , CM000682.1:g.31024426T>A	GRCh37
NC_000020.9:g.30488087T>A	NCBI36
NG_027868.1:g.83280T>A , LRG_630:g.83280T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3911T>A MANE Select	ENSP00000364839.4:p.Leu1304His
ENST00000646985.1:c.3728T>A	ENSP00000495053.1:p.Leu1243His
ENST00000647223.1:n.6264T>A
ENST00000651418.1:c.1870-1807T>A	ENSP00000499150.1:n.1870-1807T>A
ENST00000306058.9:c.3896T>A	ENSP00000305119.5:p.Leu1299His
ENST00000375687.8:c.3911T>A	ENSP00000364839.4:p.Leu1304His
ENST00000613218.4:c.3911T>A	ENSP00000480487.1:p.Leu1304His
ENST00000620121.4:c.3911T>A	ENSP00000481978.1:p.Leu1304His
NM_015338.5:c.3911T>A , LRG_630t1:c.3911T>A	NP_056153.2:p.Leu1304His
XM_006723727.2:c.3908T>A	XP_006723790.1:p.Leu1303His
XM_006723728.2:c.3881T>A	XP_006723791.1:p.Leu1294His
XM_006723730.2:c.3827T>A	XP_006723793.1:p.Leu1276His
XM_006723732.2:c.3728T>A	XP_006723795.1:p.Leu1243His
XM_006723733.1:c.3227T>A	XP_006723796.1:p.Leu1076His
XM_011528647.1:c.4175T>A	XP_011526949.1:p.Leu1392His
XM_011528648.1:c.4172T>A	XP_011526950.1:p.Leu1391His
XM_011528649.1:c.4091T>A	XP_011526951.1:p.Leu1364His
XM_011528650.1:c.4022T>A	XP_011526952.1:p.Leu1341His
XM_011528651.1:c.3890T>A	XP_011526953.1:p.Leu1297His
XM_011528652.1:c.3827T>A	XP_011526954.1:p.Leu1276His
NM_001363734.1:c.3728T>A	NP_001350663.1:p.Leu1243His
XM_006723727.3:c.3908T>A	XP_006723790.1:p.Leu1303His
XM_006723728.3:c.3881T>A	XP_006723791.1:p.Leu1294His
XM_006723730.4:c.3827T>A	XP_006723793.1:p.Leu1276His
XM_011528648.3:c.4172T>A	XP_011526950.1:p.Leu1391His
XM_011528652.2:c.3827T>A	XP_011526954.1:p.Leu1276His
XM_017027704.1:c.3827T>A	XP_016883193.1:p.Leu1276His
XM_017027705.1:c.3827T>A	XP_016883194.1:p.Leu1276His
XM_017027706.1:c.3758T>A	XP_016883195.1:p.Leu1253His
NM_015338.6:c.3911T>A MANE Select	NP_056153.2:p.Leu1304His