Canonical Allele Identifier: CA408563272

Gene: ASXL1

Linked Data

• dbSNP Id: rs777253679
• gnomAD v2: 20-31024053-G-C
• gnomAD v3: 20-32436250-G-C
• gnomAD v4: 20-32436250-G-C
• MyVariant Identifiers: chr20:g.31024053G>C (hg19) ; chr20:g.32436250G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436250G>C , CM000682.2:g.32436250G>C	GRCh38
NC_000020.10:g.31024053G>C , CM000682.1:g.31024053G>C	GRCh37
NC_000020.9:g.30487714G>C	NCBI36
NG_027868.1:g.82907G>C , LRG_630:g.82907G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375687.10:c.3538G>C MANE Select	ENSP00000364839.4:p.Asp1180His
ENST00000646985.1:c.3355G>C	ENSP00000495053.1:p.Asp1119His
ENST00000647223.1:n.5891G>C
ENST00000651418.1:c.1869+1669G>C	ENSP00000499150.1:n.1869+1669G>C
ENST00000306058.9:c.3523G>C	ENSP00000305119.5:p.Asp1175His
ENST00000375687.8:c.3538G>C	ENSP00000364839.4:p.Asp1180His
ENST00000613218.4:c.3538G>C	ENSP00000480487.1:p.Asp1180His
ENST00000620121.4:c.3538G>C	ENSP00000481978.1:p.Asp1180His
NM_015338.5:c.3538G>C , LRG_630t1:c.3538G>C	NP_056153.2:p.Asp1180His
XM_006723727.2:c.3535G>C	XP_006723790.1:p.Asp1179His
XM_006723728.2:c.3508G>C	XP_006723791.1:p.Asp1170His
XM_006723730.2:c.3454G>C	XP_006723793.1:p.Asp1152His
XM_006723732.2:c.3355G>C	XP_006723795.1:p.Asp1119His
XM_006723733.1:c.2854G>C	XP_006723796.1:p.Asp952His
XM_011528647.1:c.3802G>C	XP_011526949.1:p.Asp1268His
XM_011528648.1:c.3799G>C	XP_011526950.1:p.Asp1267His
XM_011528649.1:c.3718G>C	XP_011526951.1:p.Asp1240His
XM_011528650.1:c.3649G>C	XP_011526952.1:p.Asp1217His
XM_011528651.1:c.3517G>C	XP_011526953.1:p.Asp1173His
XM_011528652.1:c.3454G>C	XP_011526954.1:p.Asp1152His
NM_001363734.1:c.3355G>C	NP_001350663.1:p.Asp1119His
XM_006723727.3:c.3535G>C	XP_006723790.1:p.Asp1179His
XM_006723728.3:c.3508G>C	XP_006723791.1:p.Asp1170His
XM_006723730.4:c.3454G>C	XP_006723793.1:p.Asp1152His
XM_011528648.3:c.3799G>C	XP_011526950.1:p.Asp1267His
XM_011528652.2:c.3454G>C	XP_011526954.1:p.Asp1152His
XM_017027704.1:c.3454G>C	XP_016883193.1:p.Asp1152His
XM_017027705.1:c.3454G>C	XP_016883194.1:p.Asp1152His
XM_017027706.1:c.3385G>C	XP_016883195.1:p.Asp1129His
NM_015338.6:c.3538G>C MANE Select	NP_056153.2:p.Asp1180His