Canonical Allele Identifier: CA408564233

Gene: ASXL1

Linked Data

• COSMIC: COSM3545262 ; COSM3545263
• MyVariant Identifiers: chr20:g.31024516C>T (hg19) ; chr20:g.32436713C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436713C>T , CM000682.2:g.32436713C>T	GRCh38
NC_000020.10:g.31024516C>T , CM000682.1:g.31024516C>T	GRCh37
NC_000020.9:g.30488177C>T	NCBI36
NG_027868.1:g.83370C>T , LRG_630:g.83370C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4001C>T MANE Select	ENSP00000364839.4:p.Pro1334Leu
ENST00000646985.1:c.3818C>T	ENSP00000495053.1:p.Pro1273Leu
ENST00000647223.1:n.6354C>T
ENST00000651418.1:c.1870-1717C>T	ENSP00000499150.1:n.1870-1717C>T
ENST00000306058.9:c.3986C>T	ENSP00000305119.5:p.Pro1329Leu
ENST00000375687.8:c.4001C>T	ENSP00000364839.4:p.Pro1334Leu
ENST00000613218.4:c.4001C>T	ENSP00000480487.1:p.Pro1334Leu
ENST00000620121.4:c.4001C>T	ENSP00000481978.1:p.Pro1334Leu
NM_015338.5:c.4001C>T , LRG_630t1:c.4001C>T	NP_056153.2:p.Pro1334Leu
XM_006723727.2:c.3998C>T	XP_006723790.1:p.Pro1333Leu
XM_006723728.2:c.3971C>T	XP_006723791.1:p.Pro1324Leu
XM_006723730.2:c.3917C>T	XP_006723793.1:p.Pro1306Leu
XM_006723732.2:c.3818C>T	XP_006723795.1:p.Pro1273Leu
XM_006723733.1:c.3317C>T	XP_006723796.1:p.Pro1106Leu
XM_011528647.1:c.4265C>T	XP_011526949.1:p.Pro1422Leu
XM_011528648.1:c.4262C>T	XP_011526950.1:p.Pro1421Leu
XM_011528649.1:c.4181C>T	XP_011526951.1:p.Pro1394Leu
XM_011528650.1:c.4112C>T	XP_011526952.1:p.Pro1371Leu
XM_011528651.1:c.3980C>T	XP_011526953.1:p.Pro1327Leu
XM_011528652.1:c.3917C>T	XP_011526954.1:p.Pro1306Leu
NM_001363734.1:c.3818C>T	NP_001350663.1:p.Pro1273Leu
XM_006723727.3:c.3998C>T	XP_006723790.1:p.Pro1333Leu
XM_006723728.3:c.3971C>T	XP_006723791.1:p.Pro1324Leu
XM_006723730.4:c.3917C>T	XP_006723793.1:p.Pro1306Leu
XM_011528648.3:c.4262C>T	XP_011526950.1:p.Pro1421Leu
XM_011528652.2:c.3917C>T	XP_011526954.1:p.Pro1306Leu
XM_017027704.1:c.3917C>T	XP_016883193.1:p.Pro1306Leu
XM_017027705.1:c.3917C>T	XP_016883194.1:p.Pro1306Leu
XM_017027706.1:c.3848C>T	XP_016883195.1:p.Pro1283Leu
NM_015338.6:c.4001C>T MANE Select	NP_056153.2:p.Pro1334Leu