Canonical Allele Identifier: CA408564188

Gene: ASXL1

Linked Data

• dbSNP Id: rs2011915068
• MyVariant Identifiers: chr20:g.31024495C>A (hg19) ; chr20:g.32436692C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436692C>A , CM000682.2:g.32436692C>A	GRCh38
NC_000020.10:g.31024495C>A , CM000682.1:g.31024495C>A	GRCh37
NC_000020.9:g.30488156C>A	NCBI36
NG_027868.1:g.83349C>A , LRG_630:g.83349C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3980C>A MANE Select	ENSP00000364839.4:p.Ala1327Asp
ENST00000646985.1:c.3797C>A	ENSP00000495053.1:p.Ala1266Asp
ENST00000647223.1:n.6333C>A
ENST00000651418.1:c.1870-1738C>A	ENSP00000499150.1:n.1870-1738C>A
ENST00000306058.9:c.3965C>A	ENSP00000305119.5:p.Ala1322Asp
ENST00000375687.8:c.3980C>A	ENSP00000364839.4:p.Ala1327Asp
ENST00000613218.4:c.3980C>A	ENSP00000480487.1:p.Ala1327Asp
ENST00000620121.4:c.3980C>A	ENSP00000481978.1:p.Ala1327Asp
NM_015338.5:c.3980C>A , LRG_630t1:c.3980C>A	NP_056153.2:p.Ala1327Asp
XM_006723727.2:c.3977C>A	XP_006723790.1:p.Ala1326Asp
XM_006723728.2:c.3950C>A	XP_006723791.1:p.Ala1317Asp
XM_006723730.2:c.3896C>A	XP_006723793.1:p.Ala1299Asp
XM_006723732.2:c.3797C>A	XP_006723795.1:p.Ala1266Asp
XM_006723733.1:c.3296C>A	XP_006723796.1:p.Ala1099Asp
XM_011528647.1:c.4244C>A	XP_011526949.1:p.Ala1415Asp
XM_011528648.1:c.4241C>A	XP_011526950.1:p.Ala1414Asp
XM_011528649.1:c.4160C>A	XP_011526951.1:p.Ala1387Asp
XM_011528650.1:c.4091C>A	XP_011526952.1:p.Ala1364Asp
XM_011528651.1:c.3959C>A	XP_011526953.1:p.Ala1320Asp
XM_011528652.1:c.3896C>A	XP_011526954.1:p.Ala1299Asp
NM_001363734.1:c.3797C>A	NP_001350663.1:p.Ala1266Asp
XM_006723727.3:c.3977C>A	XP_006723790.1:p.Ala1326Asp
XM_006723728.3:c.3950C>A	XP_006723791.1:p.Ala1317Asp
XM_006723730.4:c.3896C>A	XP_006723793.1:p.Ala1299Asp
XM_011528648.3:c.4241C>A	XP_011526950.1:p.Ala1414Asp
XM_011528652.2:c.3896C>A	XP_011526954.1:p.Ala1299Asp
XM_017027704.1:c.3896C>A	XP_016883193.1:p.Ala1299Asp
XM_017027705.1:c.3896C>A	XP_016883194.1:p.Ala1299Asp
XM_017027706.1:c.3827C>A	XP_016883195.1:p.Ala1276Asp
NM_015338.6:c.3980C>A MANE Select	NP_056153.2:p.Ala1327Asp