Canonical Allele Identifier: CA9808957

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 1317018
• ClinVar RCV Id: RCV001758890
• dbSNP Id: rs554525759
• ExAC: 20:31024587 C / G
• gnomAD v2: 20-31024587-C-G
• gnomAD v3: 20-32436784-C-G
• gnomAD v4: 20-32436784-C-G
• COSMIC: COSM5762836 ; COSM5762837
• MyVariant Identifiers: chr20:g.31024587C>G (hg19) ; chr20:g.32436784C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436784C>G , CM000682.2:g.32436784C>G	GRCh38
NC_000020.10:g.31024587C>G , CM000682.1:g.31024587C>G	GRCh37
NC_000020.9:g.30488248C>G	NCBI36
NG_027868.1:g.83441C>G , LRG_630:g.83441C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4072C>G MANE Select	ENSP00000364839.4:p.Pro1358Ala
ENST00000646985.1:c.3889C>G	ENSP00000495053.1:p.Pro1297Ala
ENST00000647223.1:n.6425C>G
ENST00000651418.1:c.1870-1646C>G	ENSP00000499150.1:n.1870-1646C>G
ENST00000306058.9:c.4057C>G	ENSP00000305119.5:p.Pro1353Ala
ENST00000375687.8:c.4072C>G	ENSP00000364839.4:p.Pro1358Ala
ENST00000613218.4:c.4072C>G	ENSP00000480487.1:p.Pro1358Ala
ENST00000620121.4:c.4072C>G	ENSP00000481978.1:p.Pro1358Ala
NM_015338.5:c.4072C>G , LRG_630t1:c.4072C>G	NP_056153.2:p.Pro1358Ala
XM_006723727.2:c.4069C>G	XP_006723790.1:p.Pro1357Ala
XM_006723728.2:c.4042C>G	XP_006723791.1:p.Pro1348Ala
XM_006723730.2:c.3988C>G	XP_006723793.1:p.Pro1330Ala
XM_006723732.2:c.3889C>G	XP_006723795.1:p.Pro1297Ala
XM_006723733.1:c.3388C>G	XP_006723796.1:p.Pro1130Ala
XM_011528647.1:c.4336C>G	XP_011526949.1:p.Pro1446Ala
XM_011528648.1:c.4333C>G	XP_011526950.1:p.Pro1445Ala
XM_011528649.1:c.4252C>G	XP_011526951.1:p.Pro1418Ala
XM_011528650.1:c.4183C>G	XP_011526952.1:p.Pro1395Ala
XM_011528651.1:c.4051C>G	XP_011526953.1:p.Pro1351Ala
XM_011528652.1:c.3988C>G	XP_011526954.1:p.Pro1330Ala
NM_001363734.1:c.3889C>G	NP_001350663.1:p.Pro1297Ala
XM_006723727.3:c.4069C>G	XP_006723790.1:p.Pro1357Ala
XM_006723728.3:c.4042C>G	XP_006723791.1:p.Pro1348Ala
XM_006723730.4:c.3988C>G	XP_006723793.1:p.Pro1330Ala
XM_011528648.3:c.4333C>G	XP_011526950.1:p.Pro1445Ala
XM_011528652.2:c.3988C>G	XP_011526954.1:p.Pro1330Ala
XM_017027704.1:c.3988C>G	XP_016883193.1:p.Pro1330Ala
XM_017027705.1:c.3988C>G	XP_016883194.1:p.Pro1330Ala
XM_017027706.1:c.3919C>G	XP_016883195.1:p.Pro1307Ala
NM_015338.6:c.4072C>G MANE Select	NP_056153.2:p.Pro1358Ala