Canonical Allele Identifier: CA408563341

Gene: ASXL1

Linked Data

• dbSNP Id: rs1569336933
• gnomAD v4: 20-32436284-T-C
• MyVariant Identifiers: chr20:g.31024087T>C (hg19) ; chr20:g.32436284T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436284T>C , CM000682.2:g.32436284T>C	GRCh38
NC_000020.10:g.31024087T>C , CM000682.1:g.31024087T>C	GRCh37
NC_000020.9:g.30487748T>C	NCBI36
NG_027868.1:g.82941T>C , LRG_630:g.82941T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3572T>C MANE Select	ENSP00000364839.4:p.Ile1191Thr
ENST00000646985.1:c.3389T>C	ENSP00000495053.1:p.Ile1130Thr
ENST00000647223.1:n.5925T>C
ENST00000651418.1:c.1869+1703T>C	ENSP00000499150.1:n.1869+1703T>C
ENST00000306058.9:c.3557T>C	ENSP00000305119.5:p.Ile1186Thr
ENST00000375687.8:c.3572T>C	ENSP00000364839.4:p.Ile1191Thr
ENST00000613218.4:c.3572T>C	ENSP00000480487.1:p.Ile1191Thr
ENST00000620121.4:c.3572T>C	ENSP00000481978.1:p.Ile1191Thr
NM_015338.5:c.3572T>C , LRG_630t1:c.3572T>C	NP_056153.2:p.Ile1191Thr
XM_006723727.2:c.3569T>C	XP_006723790.1:p.Ile1190Thr
XM_006723728.2:c.3542T>C	XP_006723791.1:p.Ile1181Thr
XM_006723730.2:c.3488T>C	XP_006723793.1:p.Ile1163Thr
XM_006723732.2:c.3389T>C	XP_006723795.1:p.Ile1130Thr
XM_006723733.1:c.2888T>C	XP_006723796.1:p.Ile963Thr
XM_011528647.1:c.3836T>C	XP_011526949.1:p.Ile1279Thr
XM_011528648.1:c.3833T>C	XP_011526950.1:p.Ile1278Thr
XM_011528649.1:c.3752T>C	XP_011526951.1:p.Ile1251Thr
XM_011528650.1:c.3683T>C	XP_011526952.1:p.Ile1228Thr
XM_011528651.1:c.3551T>C	XP_011526953.1:p.Ile1184Thr
XM_011528652.1:c.3488T>C	XP_011526954.1:p.Ile1163Thr
NM_001363734.1:c.3389T>C	NP_001350663.1:p.Ile1130Thr
XM_006723727.3:c.3569T>C	XP_006723790.1:p.Ile1190Thr
XM_006723728.3:c.3542T>C	XP_006723791.1:p.Ile1181Thr
XM_006723730.4:c.3488T>C	XP_006723793.1:p.Ile1163Thr
XM_011528648.3:c.3833T>C	XP_011526950.1:p.Ile1278Thr
XM_011528652.2:c.3488T>C	XP_011526954.1:p.Ile1163Thr
XM_017027704.1:c.3488T>C	XP_016883193.1:p.Ile1163Thr
XM_017027705.1:c.3488T>C	XP_016883194.1:p.Ile1163Thr
XM_017027706.1:c.3419T>C	XP_016883195.1:p.Ile1140Thr
NM_015338.6:c.3572T>C MANE Select	NP_056153.2:p.Ile1191Thr