Canonical Allele Identifier: CA408564252

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32436722-A-G
• MyVariant Identifiers: chr20:g.31024525A>G (hg19) ; chr20:g.32436722A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436722A>G , CM000682.2:g.32436722A>G	GRCh38
NC_000020.10:g.31024525A>G , CM000682.1:g.31024525A>G	GRCh37
NC_000020.9:g.30488186A>G	NCBI36
NG_027868.1:g.83379A>G , LRG_630:g.83379A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4010A>G MANE Select	ENSP00000364839.4:p.Lys1337Arg
ENST00000646985.1:c.3827A>G	ENSP00000495053.1:p.Lys1276Arg
ENST00000647223.1:n.6363A>G
ENST00000651418.1:c.1870-1708A>G	ENSP00000499150.1:n.1870-1708A>G
ENST00000306058.9:c.3995A>G	ENSP00000305119.5:p.Lys1332Arg
ENST00000375687.8:c.4010A>G	ENSP00000364839.4:p.Lys1337Arg
ENST00000613218.4:c.4010A>G	ENSP00000480487.1:p.Lys1337Arg
ENST00000620121.4:c.4010A>G	ENSP00000481978.1:p.Lys1337Arg
NM_015338.5:c.4010A>G , LRG_630t1:c.4010A>G	NP_056153.2:p.Lys1337Arg
XM_006723727.2:c.4007A>G	XP_006723790.1:p.Lys1336Arg
XM_006723728.2:c.3980A>G	XP_006723791.1:p.Lys1327Arg
XM_006723730.2:c.3926A>G	XP_006723793.1:p.Lys1309Arg
XM_006723732.2:c.3827A>G	XP_006723795.1:p.Lys1276Arg
XM_006723733.1:c.3326A>G	XP_006723796.1:p.Lys1109Arg
XM_011528647.1:c.4274A>G	XP_011526949.1:p.Lys1425Arg
XM_011528648.1:c.4271A>G	XP_011526950.1:p.Lys1424Arg
XM_011528649.1:c.4190A>G	XP_011526951.1:p.Lys1397Arg
XM_011528650.1:c.4121A>G	XP_011526952.1:p.Lys1374Arg
XM_011528651.1:c.3989A>G	XP_011526953.1:p.Lys1330Arg
XM_011528652.1:c.3926A>G	XP_011526954.1:p.Lys1309Arg
NM_001363734.1:c.3827A>G	NP_001350663.1:p.Lys1276Arg
XM_006723727.3:c.4007A>G	XP_006723790.1:p.Lys1336Arg
XM_006723728.3:c.3980A>G	XP_006723791.1:p.Lys1327Arg
XM_006723730.4:c.3926A>G	XP_006723793.1:p.Lys1309Arg
XM_011528648.3:c.4271A>G	XP_011526950.1:p.Lys1424Arg
XM_011528652.2:c.3926A>G	XP_011526954.1:p.Lys1309Arg
XM_017027704.1:c.3926A>G	XP_016883193.1:p.Lys1309Arg
XM_017027705.1:c.3926A>G	XP_016883194.1:p.Lys1309Arg
XM_017027706.1:c.3857A>G	XP_016883195.1:p.Lys1286Arg
NM_015338.6:c.4010A>G MANE Select	NP_056153.2:p.Lys1337Arg