Canonical Allele Identifier: CA408563424

Gene: ASXL1

Linked Data

• dbSNP Id: rs1166225514
• gnomAD v2: 20-31024126-G-T
• gnomAD v4: 20-32436323-G-T
• MyVariant Identifiers: chr20:g.31024126G>T (hg19) ; chr20:g.32436323G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436323G>T , CM000682.2:g.32436323G>T	GRCh38
NC_000020.10:g.31024126G>T , CM000682.1:g.31024126G>T	GRCh37
NC_000020.9:g.30487787G>T	NCBI36
NG_027868.1:g.82980G>T , LRG_630:g.82980G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3611G>T MANE Select	ENSP00000364839.4:p.Cys1204Phe
ENST00000646985.1:c.3428G>T	ENSP00000495053.1:p.Cys1143Phe
ENST00000647223.1:n.5964G>T
ENST00000651418.1:c.1869+1742G>T	ENSP00000499150.1:n.1869+1742G>T
ENST00000306058.9:c.3596G>T	ENSP00000305119.5:p.Cys1199Phe
ENST00000375687.8:c.3611G>T	ENSP00000364839.4:p.Cys1204Phe
ENST00000613218.4:c.3611G>T	ENSP00000480487.1:p.Cys1204Phe
ENST00000620121.4:c.3611G>T	ENSP00000481978.1:p.Cys1204Phe
NM_015338.5:c.3611G>T , LRG_630t1:c.3611G>T	NP_056153.2:p.Cys1204Phe
XM_006723727.2:c.3608G>T	XP_006723790.1:p.Cys1203Phe
XM_006723728.2:c.3581G>T	XP_006723791.1:p.Cys1194Phe
XM_006723730.2:c.3527G>T	XP_006723793.1:p.Cys1176Phe
XM_006723732.2:c.3428G>T	XP_006723795.1:p.Cys1143Phe
XM_006723733.1:c.2927G>T	XP_006723796.1:p.Cys976Phe
XM_011528647.1:c.3875G>T	XP_011526949.1:p.Cys1292Phe
XM_011528648.1:c.3872G>T	XP_011526950.1:p.Cys1291Phe
XM_011528649.1:c.3791G>T	XP_011526951.1:p.Cys1264Phe
XM_011528650.1:c.3722G>T	XP_011526952.1:p.Cys1241Phe
XM_011528651.1:c.3590G>T	XP_011526953.1:p.Cys1197Phe
XM_011528652.1:c.3527G>T	XP_011526954.1:p.Cys1176Phe
NM_001363734.1:c.3428G>T	NP_001350663.1:p.Cys1143Phe
XM_006723727.3:c.3608G>T	XP_006723790.1:p.Cys1203Phe
XM_006723728.3:c.3581G>T	XP_006723791.1:p.Cys1194Phe
XM_006723730.4:c.3527G>T	XP_006723793.1:p.Cys1176Phe
XM_011528648.3:c.3872G>T	XP_011526950.1:p.Cys1291Phe
XM_011528652.2:c.3527G>T	XP_011526954.1:p.Cys1176Phe
XM_017027704.1:c.3527G>T	XP_016883193.1:p.Cys1176Phe
XM_017027705.1:c.3527G>T	XP_016883194.1:p.Cys1176Phe
XM_017027706.1:c.3458G>T	XP_016883195.1:p.Cys1153Phe
NM_015338.6:c.3611G>T MANE Select	NP_056153.2:p.Cys1204Phe