Canonical Allele Identifier: CA408562524

Gene: ASXL1

Linked Data

• dbSNP Id: rs2145378504
• MyVariant Identifiers: chr20:g.31023696G>A (hg19) ; chr20:g.32435893G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435893G>A , CM000682.2:g.32435893G>A	GRCh38
NC_000020.10:g.31023696G>A , CM000682.1:g.31023696G>A	GRCh37
NC_000020.9:g.30487357G>A	NCBI36
NG_027868.1:g.82550G>A , LRG_630:g.82550G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3181G>A MANE Select	ENSP00000364839.4:p.Ala1061Thr
ENST00000646985.1:c.2998G>A	ENSP00000495053.1:p.Ala1000Thr
ENST00000647223.1:n.5534G>A
ENST00000651418.1:c.1869+1312G>A	ENSP00000499150.1:n.1869+1312G>A
ENST00000306058.9:c.3166G>A	ENSP00000305119.5:p.Ala1056Thr
ENST00000375687.8:c.3181G>A	ENSP00000364839.4:p.Ala1061Thr
ENST00000613218.4:c.3181G>A	ENSP00000480487.1:p.Ala1061Thr
ENST00000620121.4:c.3181G>A	ENSP00000481978.1:p.Ala1061Thr
NM_015338.5:c.3181G>A , LRG_630t1:c.3181G>A	NP_056153.2:p.Ala1061Thr
XM_006723727.2:c.3178G>A	XP_006723790.1:p.Ala1060Thr
XM_006723728.2:c.3151G>A	XP_006723791.1:p.Ala1051Thr
XM_006723730.2:c.3097G>A	XP_006723793.1:p.Ala1033Thr
XM_006723732.2:c.2998G>A	XP_006723795.1:p.Ala1000Thr
XM_006723733.1:c.2497G>A	XP_006723796.1:p.Ala833Thr
XM_011528647.1:c.3445G>A	XP_011526949.1:p.Ala1149Thr
XM_011528648.1:c.3442G>A	XP_011526950.1:p.Ala1148Thr
XM_011528649.1:c.3361G>A	XP_011526951.1:p.Ala1121Thr
XM_011528650.1:c.3292G>A	XP_011526952.1:p.Ala1098Thr
XM_011528651.1:c.3160G>A	XP_011526953.1:p.Ala1054Thr
XM_011528652.1:c.3097G>A	XP_011526954.1:p.Ala1033Thr
NM_001363734.1:c.2998G>A	NP_001350663.1:p.Ala1000Thr
XM_006723727.3:c.3178G>A	XP_006723790.1:p.Ala1060Thr
XM_006723728.3:c.3151G>A	XP_006723791.1:p.Ala1051Thr
XM_006723730.4:c.3097G>A	XP_006723793.1:p.Ala1033Thr
XM_011528648.3:c.3442G>A	XP_011526950.1:p.Ala1148Thr
XM_011528652.2:c.3097G>A	XP_011526954.1:p.Ala1033Thr
XM_017027704.1:c.3097G>A	XP_016883193.1:p.Ala1033Thr
XM_017027705.1:c.3097G>A	XP_016883194.1:p.Ala1033Thr
XM_017027706.1:c.3028G>A	XP_016883195.1:p.Ala1010Thr
NM_015338.6:c.3181G>A MANE Select	NP_056153.2:p.Ala1061Thr