Canonical Allele Identifier: CA9808849

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 736817
• ClinVar RCV Id: RCV000912504
• dbSNP Id: rs148597247
• ExAC: 20:31024055 T / C
• gnomAD v2: 20-31024055-T-C
• gnomAD v3: 20-32436252-T-C
• gnomAD v4: 20-32436252-T-C
• MyVariant Identifiers: chr20:g.31024055T>C (hg19) ; chr20:g.32436252T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436252T>C , CM000682.2:g.32436252T>C	GRCh38
NC_000020.10:g.31024055T>C , CM000682.1:g.31024055T>C	GRCh37
NC_000020.9:g.30487716T>C	NCBI36
NG_027868.1:g.82909T>C , LRG_630:g.82909T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375687.10:c.3540T>C MANE Select	ENSP00000364839.4:p.Asp1180=
ENST00000646985.1:c.3357T>C	ENSP00000495053.1:p.Asp1119=
ENST00000647223.1:n.5893T>C
ENST00000651418.1:c.1869+1671T>C	ENSP00000499150.1:n.1869+1671T>C
ENST00000306058.9:c.3525T>C	ENSP00000305119.5:p.Asp1175=
ENST00000375687.8:c.3540T>C	ENSP00000364839.4:p.Asp1180=
ENST00000613218.4:c.3540T>C	ENSP00000480487.1:p.Asp1180=
ENST00000620121.4:c.3540T>C	ENSP00000481978.1:p.Asp1180=
NM_015338.5:c.3540T>C , LRG_630t1:c.3540T>C	NP_056153.2:p.Asp1180=
XM_006723727.2:c.3537T>C	XP_006723790.1:p.Asp1179=
XM_006723728.2:c.3510T>C	XP_006723791.1:p.Asp1170=
XM_006723730.2:c.3456T>C	XP_006723793.1:p.Asp1152=
XM_006723732.2:c.3357T>C	XP_006723795.1:p.Asp1119=
XM_006723733.1:c.2856T>C	XP_006723796.1:p.Asp952=
XM_011528647.1:c.3804T>C	XP_011526949.1:p.Asp1268=
XM_011528648.1:c.3801T>C	XP_011526950.1:p.Asp1267=
XM_011528649.1:c.3720T>C	XP_011526951.1:p.Asp1240=
XM_011528650.1:c.3651T>C	XP_011526952.1:p.Asp1217=
XM_011528651.1:c.3519T>C	XP_011526953.1:p.Asp1173=
XM_011528652.1:c.3456T>C	XP_011526954.1:p.Asp1152=
NM_001363734.1:c.3357T>C	NP_001350663.1:p.Asp1119=
XM_006723727.3:c.3537T>C	XP_006723790.1:p.Asp1179=
XM_006723728.3:c.3510T>C	XP_006723791.1:p.Asp1170=
XM_006723730.4:c.3456T>C	XP_006723793.1:p.Asp1152=
XM_011528648.3:c.3801T>C	XP_011526950.1:p.Asp1267=
XM_011528652.2:c.3456T>C	XP_011526954.1:p.Asp1152=
XM_017027704.1:c.3456T>C	XP_016883193.1:p.Asp1152=
XM_017027705.1:c.3456T>C	XP_016883194.1:p.Asp1152=
XM_017027706.1:c.3387T>C	XP_016883195.1:p.Asp1129=
NM_015338.6:c.3540T>C MANE Select	NP_056153.2:p.Asp1180=