Canonical Allele Identifier: CA313926358

Gene: ASXL1

Linked Data

• dbSNP Id: rs1017449909
• gnomAD v3: 20-32436456-T-C
• gnomAD v4: 20-32436456-T-C
• MyVariant Identifiers: chr20:g.31024259T>C (hg19) ; chr20:g.32436456T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436456T>C , CM000682.2:g.32436456T>C	GRCh38
NC_000020.10:g.31024259T>C , CM000682.1:g.31024259T>C	GRCh37
NC_000020.9:g.30487920T>C	NCBI36
NG_027868.1:g.83113T>C , LRG_630:g.83113T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3744T>C MANE Select	ENSP00000364839.4:p.Ala1248=
ENST00000646985.1:c.3561T>C	ENSP00000495053.1:p.Ala1187=
ENST00000647223.1:n.6097T>C
ENST00000651418.1:c.1869+1875T>C	ENSP00000499150.1:n.1869+1875T>C
ENST00000306058.9:c.3729T>C	ENSP00000305119.5:p.Ala1243=
ENST00000375687.8:c.3744T>C	ENSP00000364839.4:p.Ala1248=
ENST00000613218.4:c.3744T>C	ENSP00000480487.1:p.Ala1248=
ENST00000620121.4:c.3744T>C	ENSP00000481978.1:p.Ala1248=
NM_015338.5:c.3744T>C , LRG_630t1:c.3744T>C	NP_056153.2:p.Ala1248=
XM_006723727.2:c.3741T>C	XP_006723790.1:p.Ala1247=
XM_006723728.2:c.3714T>C	XP_006723791.1:p.Ala1238=
XM_006723730.2:c.3660T>C	XP_006723793.1:p.Ala1220=
XM_006723732.2:c.3561T>C	XP_006723795.1:p.Ala1187=
XM_006723733.1:c.3060T>C	XP_006723796.1:p.Ala1020=
XM_011528647.1:c.4008T>C	XP_011526949.1:p.Ala1336=
XM_011528648.1:c.4005T>C	XP_011526950.1:p.Ala1335=
XM_011528649.1:c.3924T>C	XP_011526951.1:p.Ala1308=
XM_011528650.1:c.3855T>C	XP_011526952.1:p.Ala1285=
XM_011528651.1:c.3723T>C	XP_011526953.1:p.Ala1241=
XM_011528652.1:c.3660T>C	XP_011526954.1:p.Ala1220=
NM_001363734.1:c.3561T>C	NP_001350663.1:p.Ala1187=
XM_006723727.3:c.3741T>C	XP_006723790.1:p.Ala1247=
XM_006723728.3:c.3714T>C	XP_006723791.1:p.Ala1238=
XM_006723730.4:c.3660T>C	XP_006723793.1:p.Ala1220=
XM_011528648.3:c.4005T>C	XP_011526950.1:p.Ala1335=
XM_011528652.2:c.3660T>C	XP_011526954.1:p.Ala1220=
XM_017027704.1:c.3660T>C	XP_016883193.1:p.Ala1220=
XM_017027705.1:c.3660T>C	XP_016883194.1:p.Ala1220=
XM_017027706.1:c.3591T>C	XP_016883195.1:p.Ala1197=
NM_015338.6:c.3744T>C MANE Select	NP_056153.2:p.Ala1248=