Canonical Allele Identifier: CA408562592

Gene: ASXL1

Linked Data

• dbSNP Id: rs779930291
• MyVariant Identifiers: chr20:g.31023730T>C (hg19) ; chr20:g.32435927T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435927T>C , CM000682.2:g.32435927T>C	GRCh38
NC_000020.10:g.31023730T>C , CM000682.1:g.31023730T>C	GRCh37
NC_000020.9:g.30487391T>C	NCBI36
NG_027868.1:g.82584T>C , LRG_630:g.82584T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3215T>C MANE Select	ENSP00000364839.4:p.Val1072Ala
ENST00000646985.1:c.3032T>C	ENSP00000495053.1:p.Val1011Ala
ENST00000647223.1:n.5568T>C
ENST00000651418.1:c.1869+1346T>C	ENSP00000499150.1:n.1869+1346T>C
ENST00000306058.9:c.3200T>C	ENSP00000305119.5:p.Val1067Ala
ENST00000375687.8:c.3215T>C	ENSP00000364839.4:p.Val1072Ala
ENST00000613218.4:c.3215T>C	ENSP00000480487.1:p.Val1072Ala
ENST00000620121.4:c.3215T>C	ENSP00000481978.1:p.Val1072Ala
NM_015338.5:c.3215T>C , LRG_630t1:c.3215T>C	NP_056153.2:p.Val1072Ala
XM_006723727.2:c.3212T>C	XP_006723790.1:p.Val1071Ala
XM_006723728.2:c.3185T>C	XP_006723791.1:p.Val1062Ala
XM_006723730.2:c.3131T>C	XP_006723793.1:p.Val1044Ala
XM_006723732.2:c.3032T>C	XP_006723795.1:p.Val1011Ala
XM_006723733.1:c.2531T>C	XP_006723796.1:p.Val844Ala
XM_011528647.1:c.3479T>C	XP_011526949.1:p.Val1160Ala
XM_011528648.1:c.3476T>C	XP_011526950.1:p.Val1159Ala
XM_011528649.1:c.3395T>C	XP_011526951.1:p.Val1132Ala
XM_011528650.1:c.3326T>C	XP_011526952.1:p.Val1109Ala
XM_011528651.1:c.3194T>C	XP_011526953.1:p.Val1065Ala
XM_011528652.1:c.3131T>C	XP_011526954.1:p.Val1044Ala
NM_001363734.1:c.3032T>C	NP_001350663.1:p.Val1011Ala
XM_006723727.3:c.3212T>C	XP_006723790.1:p.Val1071Ala
XM_006723728.3:c.3185T>C	XP_006723791.1:p.Val1062Ala
XM_006723730.4:c.3131T>C	XP_006723793.1:p.Val1044Ala
XM_011528648.3:c.3476T>C	XP_011526950.1:p.Val1159Ala
XM_011528652.2:c.3131T>C	XP_011526954.1:p.Val1044Ala
XM_017027704.1:c.3131T>C	XP_016883193.1:p.Val1044Ala
XM_017027705.1:c.3131T>C	XP_016883194.1:p.Val1044Ala
XM_017027706.1:c.3062T>C	XP_016883195.1:p.Val1021Ala
NM_015338.6:c.3215T>C MANE Select	NP_056153.2:p.Val1072Ala