Canonical Allele Identifier: CA9808882

Gene: ASXL1

Linked Data

• dbSNP Id: rs780599775
• ExAC: 20:31024221 T / G
• gnomAD v2: 20-31024221-T-G
• gnomAD v3: 20-32436418-T-G
• gnomAD v4: 20-32436418-T-G
• MyVariant Identifiers: chr20:g.31024221T>G (hg19) ; chr20:g.32436418T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436418T>G , CM000682.2:g.32436418T>G	GRCh38
NC_000020.10:g.31024221T>G , CM000682.1:g.31024221T>G	GRCh37
NC_000020.9:g.30487882T>G	NCBI36
NG_027868.1:g.83075T>G , LRG_630:g.83075T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3706T>G MANE Select	ENSP00000364839.4:p.Ser1236Ala
ENST00000646985.1:c.3523T>G	ENSP00000495053.1:p.Ser1175Ala
ENST00000647223.1:n.6059T>G
ENST00000651418.1:c.1869+1837T>G	ENSP00000499150.1:n.1869+1837T>G
ENST00000306058.9:c.3691T>G	ENSP00000305119.5:p.Ser1231Ala
ENST00000375687.8:c.3706T>G	ENSP00000364839.4:p.Ser1236Ala
ENST00000613218.4:c.3706T>G	ENSP00000480487.1:p.Ser1236Ala
ENST00000620121.4:c.3706T>G	ENSP00000481978.1:p.Ser1236Ala
NM_015338.5:c.3706T>G , LRG_630t1:c.3706T>G	NP_056153.2:p.Ser1236Ala
XM_006723727.2:c.3703T>G	XP_006723790.1:p.Ser1235Ala
XM_006723728.2:c.3676T>G	XP_006723791.1:p.Ser1226Ala
XM_006723730.2:c.3622T>G	XP_006723793.1:p.Ser1208Ala
XM_006723732.2:c.3523T>G	XP_006723795.1:p.Ser1175Ala
XM_006723733.1:c.3022T>G	XP_006723796.1:p.Ser1008Ala
XM_011528647.1:c.3970T>G	XP_011526949.1:p.Ser1324Ala
XM_011528648.1:c.3967T>G	XP_011526950.1:p.Ser1323Ala
XM_011528649.1:c.3886T>G	XP_011526951.1:p.Ser1296Ala
XM_011528650.1:c.3817T>G	XP_011526952.1:p.Ser1273Ala
XM_011528651.1:c.3685T>G	XP_011526953.1:p.Ser1229Ala
XM_011528652.1:c.3622T>G	XP_011526954.1:p.Ser1208Ala
NM_001363734.1:c.3523T>G	NP_001350663.1:p.Ser1175Ala
XM_006723727.3:c.3703T>G	XP_006723790.1:p.Ser1235Ala
XM_006723728.3:c.3676T>G	XP_006723791.1:p.Ser1226Ala
XM_006723730.4:c.3622T>G	XP_006723793.1:p.Ser1208Ala
XM_011528648.3:c.3967T>G	XP_011526950.1:p.Ser1323Ala
XM_011528652.2:c.3622T>G	XP_011526954.1:p.Ser1208Ala
XM_017027704.1:c.3622T>G	XP_016883193.1:p.Ser1208Ala
XM_017027705.1:c.3622T>G	XP_016883194.1:p.Ser1208Ala
XM_017027706.1:c.3553T>G	XP_016883195.1:p.Ser1185Ala
NM_015338.6:c.3706T>G MANE Select	NP_056153.2:p.Ser1236Ala