Canonical Allele Identifier: CA9808923

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 2991813
• ClinVar RCV Id: RCV003852876
• dbSNP Id: rs747267907
• ExAC: 20:31024425 C / A
• gnomAD v2: 20-31024425-C-A
• gnomAD v3: 20-32436622-C-A
• gnomAD v4: 20-32436622-C-A
• MyVariant Identifiers: chr20:g.31024425C>A (hg19) ; chr20:g.32436622C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436622C>A , CM000682.2:g.32436622C>A	GRCh38
NC_000020.10:g.31024425C>A , CM000682.1:g.31024425C>A	GRCh37
NC_000020.9:g.30488086C>A	NCBI36
NG_027868.1:g.83279C>A , LRG_630:g.83279C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3910C>A MANE Select	ENSP00000364839.4:p.Leu1304Ile
ENST00000646985.1:c.3727C>A	ENSP00000495053.1:p.Leu1243Ile
ENST00000647223.1:n.6263C>A
ENST00000651418.1:c.1870-1808C>A	ENSP00000499150.1:n.1870-1808C>A
ENST00000306058.9:c.3895C>A	ENSP00000305119.5:p.Leu1299Ile
ENST00000375687.8:c.3910C>A	ENSP00000364839.4:p.Leu1304Ile
ENST00000613218.4:c.3910C>A	ENSP00000480487.1:p.Leu1304Ile
ENST00000620121.4:c.3910C>A	ENSP00000481978.1:p.Leu1304Ile
NM_015338.5:c.3910C>A , LRG_630t1:c.3910C>A	NP_056153.2:p.Leu1304Ile
XM_006723727.2:c.3907C>A	XP_006723790.1:p.Leu1303Ile
XM_006723728.2:c.3880C>A	XP_006723791.1:p.Leu1294Ile
XM_006723730.2:c.3826C>A	XP_006723793.1:p.Leu1276Ile
XM_006723732.2:c.3727C>A	XP_006723795.1:p.Leu1243Ile
XM_006723733.1:c.3226C>A	XP_006723796.1:p.Leu1076Ile
XM_011528647.1:c.4174C>A	XP_011526949.1:p.Leu1392Ile
XM_011528648.1:c.4171C>A	XP_011526950.1:p.Leu1391Ile
XM_011528649.1:c.4090C>A	XP_011526951.1:p.Leu1364Ile
XM_011528650.1:c.4021C>A	XP_011526952.1:p.Leu1341Ile
XM_011528651.1:c.3889C>A	XP_011526953.1:p.Leu1297Ile
XM_011528652.1:c.3826C>A	XP_011526954.1:p.Leu1276Ile
NM_001363734.1:c.3727C>A	NP_001350663.1:p.Leu1243Ile
XM_006723727.3:c.3907C>A	XP_006723790.1:p.Leu1303Ile
XM_006723728.3:c.3880C>A	XP_006723791.1:p.Leu1294Ile
XM_006723730.4:c.3826C>A	XP_006723793.1:p.Leu1276Ile
XM_011528648.3:c.4171C>A	XP_011526950.1:p.Leu1391Ile
XM_011528652.2:c.3826C>A	XP_011526954.1:p.Leu1276Ile
XM_017027704.1:c.3826C>A	XP_016883193.1:p.Leu1276Ile
XM_017027705.1:c.3826C>A	XP_016883194.1:p.Leu1276Ile
XM_017027706.1:c.3757C>A	XP_016883195.1:p.Leu1253Ile
NM_015338.6:c.3910C>A MANE Select	NP_056153.2:p.Leu1304Ile