Canonical Allele Identifier: CA408564230

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 1994565
• ClinVar RCV Id: RCV002791229
• MyVariant Identifiers: chr20:g.31024515C>G (hg19) ; chr20:g.32436712C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436712C>G , CM000682.2:g.32436712C>G	GRCh38
NC_000020.10:g.31024515C>G , CM000682.1:g.31024515C>G	GRCh37
NC_000020.9:g.30488176C>G	NCBI36
NG_027868.1:g.83369C>G , LRG_630:g.83369C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4000C>G MANE Select	ENSP00000364839.4:p.Pro1334Ala
ENST00000646985.1:c.3817C>G	ENSP00000495053.1:p.Pro1273Ala
ENST00000647223.1:n.6353C>G
ENST00000651418.1:c.1870-1718C>G	ENSP00000499150.1:n.1870-1718C>G
ENST00000306058.9:c.3985C>G	ENSP00000305119.5:p.Pro1329Ala
ENST00000375687.8:c.4000C>G	ENSP00000364839.4:p.Pro1334Ala
ENST00000613218.4:c.4000C>G	ENSP00000480487.1:p.Pro1334Ala
ENST00000620121.4:c.4000C>G	ENSP00000481978.1:p.Pro1334Ala
NM_015338.5:c.4000C>G , LRG_630t1:c.4000C>G	NP_056153.2:p.Pro1334Ala
XM_006723727.2:c.3997C>G	XP_006723790.1:p.Pro1333Ala
XM_006723728.2:c.3970C>G	XP_006723791.1:p.Pro1324Ala
XM_006723730.2:c.3916C>G	XP_006723793.1:p.Pro1306Ala
XM_006723732.2:c.3817C>G	XP_006723795.1:p.Pro1273Ala
XM_006723733.1:c.3316C>G	XP_006723796.1:p.Pro1106Ala
XM_011528647.1:c.4264C>G	XP_011526949.1:p.Pro1422Ala
XM_011528648.1:c.4261C>G	XP_011526950.1:p.Pro1421Ala
XM_011528649.1:c.4180C>G	XP_011526951.1:p.Pro1394Ala
XM_011528650.1:c.4111C>G	XP_011526952.1:p.Pro1371Ala
XM_011528651.1:c.3979C>G	XP_011526953.1:p.Pro1327Ala
XM_011528652.1:c.3916C>G	XP_011526954.1:p.Pro1306Ala
NM_001363734.1:c.3817C>G	NP_001350663.1:p.Pro1273Ala
XM_006723727.3:c.3997C>G	XP_006723790.1:p.Pro1333Ala
XM_006723728.3:c.3970C>G	XP_006723791.1:p.Pro1324Ala
XM_006723730.4:c.3916C>G	XP_006723793.1:p.Pro1306Ala
XM_011528648.3:c.4261C>G	XP_011526950.1:p.Pro1421Ala
XM_011528652.2:c.3916C>G	XP_011526954.1:p.Pro1306Ala
XM_017027704.1:c.3916C>G	XP_016883193.1:p.Pro1306Ala
XM_017027705.1:c.3916C>G	XP_016883194.1:p.Pro1306Ala
XM_017027706.1:c.3847C>G	XP_016883195.1:p.Pro1283Ala
NM_015338.6:c.4000C>G MANE Select	NP_056153.2:p.Pro1334Ala