Canonical Allele Identifier: CA408562518

Gene: ASXL1

Linked Data

• dbSNP Id: rs138521991
• gnomAD v4: 20-32435890-G-T
• MyVariant Identifiers: chr20:g.31023693G>T (hg19) ; chr20:g.32435890G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435890G>T , CM000682.2:g.32435890G>T	GRCh38
NC_000020.10:g.31023693G>T , CM000682.1:g.31023693G>T	GRCh37
NC_000020.9:g.30487354G>T	NCBI36
NG_027868.1:g.82547G>T , LRG_630:g.82547G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3178G>T MANE Select	ENSP00000364839.4:p.Val1060Phe
ENST00000646985.1:c.2995G>T	ENSP00000495053.1:p.Val999Phe
ENST00000647223.1:n.5531G>T
ENST00000651418.1:c.1869+1309G>T	ENSP00000499150.1:n.1869+1309G>T
ENST00000306058.9:c.3163G>T	ENSP00000305119.5:p.Val1055Phe
ENST00000375687.8:c.3178G>T	ENSP00000364839.4:p.Val1060Phe
ENST00000613218.4:c.3178G>T	ENSP00000480487.1:p.Val1060Phe
ENST00000620121.4:c.3178G>T	ENSP00000481978.1:p.Val1060Phe
NM_015338.5:c.3178G>T , LRG_630t1:c.3178G>T	NP_056153.2:p.Val1060Phe
XM_006723727.2:c.3175G>T	XP_006723790.1:p.Val1059Phe
XM_006723728.2:c.3148G>T	XP_006723791.1:p.Val1050Phe
XM_006723730.2:c.3094G>T	XP_006723793.1:p.Val1032Phe
XM_006723732.2:c.2995G>T	XP_006723795.1:p.Val999Phe
XM_006723733.1:c.2494G>T	XP_006723796.1:p.Val832Phe
XM_011528647.1:c.3442G>T	XP_011526949.1:p.Val1148Phe
XM_011528648.1:c.3439G>T	XP_011526950.1:p.Val1147Phe
XM_011528649.1:c.3358G>T	XP_011526951.1:p.Val1120Phe
XM_011528650.1:c.3289G>T	XP_011526952.1:p.Val1097Phe
XM_011528651.1:c.3157G>T	XP_011526953.1:p.Val1053Phe
XM_011528652.1:c.3094G>T	XP_011526954.1:p.Val1032Phe
NM_001363734.1:c.2995G>T	NP_001350663.1:p.Val999Phe
XM_006723727.3:c.3175G>T	XP_006723790.1:p.Val1059Phe
XM_006723728.3:c.3148G>T	XP_006723791.1:p.Val1050Phe
XM_006723730.4:c.3094G>T	XP_006723793.1:p.Val1032Phe
XM_011528648.3:c.3439G>T	XP_011526950.1:p.Val1147Phe
XM_011528652.2:c.3094G>T	XP_011526954.1:p.Val1032Phe
XM_017027704.1:c.3094G>T	XP_016883193.1:p.Val1032Phe
XM_017027705.1:c.3094G>T	XP_016883194.1:p.Val1032Phe
XM_017027706.1:c.3025G>T	XP_016883195.1:p.Val1009Phe
NM_015338.6:c.3178G>T MANE Select	NP_056153.2:p.Val1060Phe