Canonical Allele Identifier: CA408564293

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32436742-T-C
• MyVariant Identifiers: chr20:g.31024545T>C (hg19) ; chr20:g.32436742T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436742T>C , CM000682.2:g.32436742T>C	GRCh38
NC_000020.10:g.31024545T>C , CM000682.1:g.31024545T>C	GRCh37
NC_000020.9:g.30488206T>C	NCBI36
NG_027868.1:g.83399T>C , LRG_630:g.83399T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4030T>C MANE Select	ENSP00000364839.4:p.Ser1344Pro
ENST00000646985.1:c.3847T>C	ENSP00000495053.1:p.Ser1283Pro
ENST00000647223.1:n.6383T>C
ENST00000651418.1:c.1870-1688T>C	ENSP00000499150.1:n.1870-1688T>C
ENST00000306058.9:c.4015T>C	ENSP00000305119.5:p.Ser1339Pro
ENST00000375687.8:c.4030T>C	ENSP00000364839.4:p.Ser1344Pro
ENST00000613218.4:c.4030T>C	ENSP00000480487.1:p.Ser1344Pro
ENST00000620121.4:c.4030T>C	ENSP00000481978.1:p.Ser1344Pro
NM_015338.5:c.4030T>C , LRG_630t1:c.4030T>C	NP_056153.2:p.Ser1344Pro
XM_006723727.2:c.4027T>C	XP_006723790.1:p.Ser1343Pro
XM_006723728.2:c.4000T>C	XP_006723791.1:p.Ser1334Pro
XM_006723730.2:c.3946T>C	XP_006723793.1:p.Ser1316Pro
XM_006723732.2:c.3847T>C	XP_006723795.1:p.Ser1283Pro
XM_006723733.1:c.3346T>C	XP_006723796.1:p.Ser1116Pro
XM_011528647.1:c.4294T>C	XP_011526949.1:p.Ser1432Pro
XM_011528648.1:c.4291T>C	XP_011526950.1:p.Ser1431Pro
XM_011528649.1:c.4210T>C	XP_011526951.1:p.Ser1404Pro
XM_011528650.1:c.4141T>C	XP_011526952.1:p.Ser1381Pro
XM_011528651.1:c.4009T>C	XP_011526953.1:p.Ser1337Pro
XM_011528652.1:c.3946T>C	XP_011526954.1:p.Ser1316Pro
NM_001363734.1:c.3847T>C	NP_001350663.1:p.Ser1283Pro
XM_006723727.3:c.4027T>C	XP_006723790.1:p.Ser1343Pro
XM_006723728.3:c.4000T>C	XP_006723791.1:p.Ser1334Pro
XM_006723730.4:c.3946T>C	XP_006723793.1:p.Ser1316Pro
XM_011528648.3:c.4291T>C	XP_011526950.1:p.Ser1431Pro
XM_011528652.2:c.3946T>C	XP_011526954.1:p.Ser1316Pro
XM_017027704.1:c.3946T>C	XP_016883193.1:p.Ser1316Pro
XM_017027705.1:c.3946T>C	XP_016883194.1:p.Ser1316Pro
XM_017027706.1:c.3877T>C	XP_016883195.1:p.Ser1293Pro
NM_015338.6:c.4030T>C MANE Select	NP_056153.2:p.Ser1344Pro