Canonical Allele Identifier: CA9808894

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 338113
• ClinVar RCV Id: RCV000603784 ; RCV001517396 ; RCV001553862
• dbSNP Id: rs4911231
• ExAC: 20:31024274 T / C
• gnomAD v2: 20-31024274-T-C
• gnomAD v3: 20-32436471-T-C
• gnomAD v4: 20-32436471-T-C
• MyVariant Identifiers: chr20:g.31024274T>C (hg19) ; chr20:g.32436471T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436471T>C , CM000682.2:g.32436471T>C	GRCh38
NC_000020.10:g.31024274T>C , CM000682.1:g.31024274T>C	GRCh37
NC_000020.9:g.30487935T>C	NCBI36
NG_027868.1:g.83128T>C , LRG_630:g.83128T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3759T>C MANE Select	ENSP00000364839.4:p.Ser1253=
ENST00000646985.1:c.3576T>C	ENSP00000495053.1:p.Ser1192=
ENST00000647223.1:n.6112T>C
ENST00000651418.1:c.1869+1890T>C	ENSP00000499150.1:n.1869+1890T>C
ENST00000306058.9:c.3744T>C	ENSP00000305119.5:p.Ser1248=
ENST00000375687.8:c.3759T>C	ENSP00000364839.4:p.Ser1253=
ENST00000613218.4:c.3759T>C	ENSP00000480487.1:p.Ser1253=
ENST00000620121.4:c.3759T>C	ENSP00000481978.1:p.Ser1253=
NM_015338.5:c.3759T>C , LRG_630t1:c.3759T>C	NP_056153.2:p.Ser1253=
XM_006723727.2:c.3756T>C	XP_006723790.1:p.Ser1252=
XM_006723728.2:c.3729T>C	XP_006723791.1:p.Ser1243=
XM_006723730.2:c.3675T>C	XP_006723793.1:p.Ser1225=
XM_006723732.2:c.3576T>C	XP_006723795.1:p.Ser1192=
XM_006723733.1:c.3075T>C	XP_006723796.1:p.Ser1025=
XM_011528647.1:c.4023T>C	XP_011526949.1:p.Ser1341=
XM_011528648.1:c.4020T>C	XP_011526950.1:p.Ser1340=
XM_011528649.1:c.3939T>C	XP_011526951.1:p.Ser1313=
XM_011528650.1:c.3870T>C	XP_011526952.1:p.Ser1290=
XM_011528651.1:c.3738T>C	XP_011526953.1:p.Ser1246=
XM_011528652.1:c.3675T>C	XP_011526954.1:p.Ser1225=
NM_001363734.1:c.3576T>C	NP_001350663.1:p.Ser1192=
XM_006723727.3:c.3756T>C	XP_006723790.1:p.Ser1252=
XM_006723728.3:c.3729T>C	XP_006723791.1:p.Ser1243=
XM_006723730.4:c.3675T>C	XP_006723793.1:p.Ser1225=
XM_011528648.3:c.4020T>C	XP_011526950.1:p.Ser1340=
XM_011528652.2:c.3675T>C	XP_011526954.1:p.Ser1225=
XM_017027704.1:c.3675T>C	XP_016883193.1:p.Ser1225=
XM_017027705.1:c.3675T>C	XP_016883194.1:p.Ser1225=
XM_017027706.1:c.3606T>C	XP_016883195.1:p.Ser1202=
NM_015338.6:c.3759T>C MANE Select	NP_056153.2:p.Ser1253=