Canonical Allele Identifier: CA510467148

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32435952-A-C
• MyVariant Identifiers: chr20:g.31023755A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435952A>C , CM000682.2:g.32435952A>C	GRCh38
NC_000020.10:g.31023755A>C , CM000682.1:g.31023755A>C	GRCh37
NC_000020.9:g.30487416A>C	NCBI36
NG_027868.1:g.82609A>C , LRG_630:g.82609A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3240A>C MANE Select	ENSP00000364839.4:p.Leu1080=
ENST00000646985.1:c.3057A>C	ENSP00000495053.1:p.Leu1019=
ENST00000647223.1:n.5593A>C
ENST00000651418.1:c.1869+1371A>C	ENSP00000499150.1:n.1869+1371A>C
ENST00000306058.9:c.3225A>C	ENSP00000305119.5:p.Leu1075=
ENST00000375687.8:c.3240A>C	ENSP00000364839.4:p.Leu1080=
ENST00000613218.4:c.3240A>C	ENSP00000480487.1:p.Leu1080=
ENST00000620121.4:c.3240A>C	ENSP00000481978.1:p.Leu1080=
NM_015338.5:c.3240A>C , LRG_630t1:c.3240A>C	NP_056153.2:p.Leu1080=
XM_006723727.2:c.3237A>C	XP_006723790.1:p.Leu1079=
XM_006723728.2:c.3210A>C	XP_006723791.1:p.Leu1070=
XM_006723730.2:c.3156A>C	XP_006723793.1:p.Leu1052=
XM_006723732.2:c.3057A>C	XP_006723795.1:p.Leu1019=
XM_006723733.1:c.2556A>C	XP_006723796.1:p.Leu852=
XM_011528647.1:c.3504A>C	XP_011526949.1:p.Leu1168=
XM_011528648.1:c.3501A>C	XP_011526950.1:p.Leu1167=
XM_011528649.1:c.3420A>C	XP_011526951.1:p.Leu1140=
XM_011528650.1:c.3351A>C	XP_011526952.1:p.Leu1117=
XM_011528651.1:c.3219A>C	XP_011526953.1:p.Leu1073=
XM_011528652.1:c.3156A>C	XP_011526954.1:p.Leu1052=
NM_001363734.1:c.3057A>C	NP_001350663.1:p.Leu1019=
XM_006723727.3:c.3237A>C	XP_006723790.1:p.Leu1079=
XM_006723728.3:c.3210A>C	XP_006723791.1:p.Leu1070=
XM_006723730.4:c.3156A>C	XP_006723793.1:p.Leu1052=
XM_011528648.3:c.3501A>C	XP_011526950.1:p.Leu1167=
XM_011528652.2:c.3156A>C	XP_011526954.1:p.Leu1052=
XM_017027704.1:c.3156A>C	XP_016883193.1:p.Leu1052=
XM_017027705.1:c.3156A>C	XP_016883194.1:p.Leu1052=
XM_017027706.1:c.3087A>C	XP_016883195.1:p.Leu1029=
NM_015338.6:c.3240A>C MANE Select	NP_056153.2:p.Leu1080=