Canonical Allele Identifier: CA408564038

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31024419A>C (hg19) ; chr20:g.32436616A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436616A>C , CM000682.2:g.32436616A>C	GRCh38
NC_000020.10:g.31024419A>C , CM000682.1:g.31024419A>C	GRCh37
NC_000020.9:g.30488080A>C	NCBI36
NG_027868.1:g.83273A>C , LRG_630:g.83273A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3904A>C MANE Select	ENSP00000364839.4:p.Lys1302Gln
ENST00000646985.1:c.3721A>C	ENSP00000495053.1:p.Lys1241Gln
ENST00000647223.1:n.6257A>C
ENST00000651418.1:c.1870-1814A>C	ENSP00000499150.1:n.1870-1814A>C
ENST00000306058.9:c.3889A>C	ENSP00000305119.5:p.Lys1297Gln
ENST00000375687.8:c.3904A>C	ENSP00000364839.4:p.Lys1302Gln
ENST00000613218.4:c.3904A>C	ENSP00000480487.1:p.Lys1302Gln
ENST00000620121.4:c.3904A>C	ENSP00000481978.1:p.Lys1302Gln
NM_015338.5:c.3904A>C , LRG_630t1:c.3904A>C	NP_056153.2:p.Lys1302Gln
XM_006723727.2:c.3901A>C	XP_006723790.1:p.Lys1301Gln
XM_006723728.2:c.3874A>C	XP_006723791.1:p.Lys1292Gln
XM_006723730.2:c.3820A>C	XP_006723793.1:p.Lys1274Gln
XM_006723732.2:c.3721A>C	XP_006723795.1:p.Lys1241Gln
XM_006723733.1:c.3220A>C	XP_006723796.1:p.Lys1074Gln
XM_011528647.1:c.4168A>C	XP_011526949.1:p.Lys1390Gln
XM_011528648.1:c.4165A>C	XP_011526950.1:p.Lys1389Gln
XM_011528649.1:c.4084A>C	XP_011526951.1:p.Lys1362Gln
XM_011528650.1:c.4015A>C	XP_011526952.1:p.Lys1339Gln
XM_011528651.1:c.3883A>C	XP_011526953.1:p.Lys1295Gln
XM_011528652.1:c.3820A>C	XP_011526954.1:p.Lys1274Gln
NM_001363734.1:c.3721A>C	NP_001350663.1:p.Lys1241Gln
XM_006723727.3:c.3901A>C	XP_006723790.1:p.Lys1301Gln
XM_006723728.3:c.3874A>C	XP_006723791.1:p.Lys1292Gln
XM_006723730.4:c.3820A>C	XP_006723793.1:p.Lys1274Gln
XM_011528648.3:c.4165A>C	XP_011526950.1:p.Lys1389Gln
XM_011528652.2:c.3820A>C	XP_011526954.1:p.Lys1274Gln
XM_017027704.1:c.3820A>C	XP_016883193.1:p.Lys1274Gln
XM_017027705.1:c.3820A>C	XP_016883194.1:p.Lys1274Gln
XM_017027706.1:c.3751A>C	XP_016883195.1:p.Lys1251Gln
NM_015338.6:c.3904A>C MANE Select	NP_056153.2:p.Lys1302Gln