Canonical Allele Identifier: CA408564440

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31024614G>T (hg19) ; chr20:g.32436811G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436811G>T , CM000682.2:g.32436811G>T	GRCh38
NC_000020.10:g.31024614G>T , CM000682.1:g.31024614G>T	GRCh37
NC_000020.9:g.30488275G>T	NCBI36
NG_027868.1:g.83468G>T , LRG_630:g.83468G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4099G>T MANE Select	ENSP00000364839.4:p.Val1367Phe
ENST00000646985.1:c.3916G>T	ENSP00000495053.1:p.Val1306Phe
ENST00000647223.1:n.6452G>T
ENST00000651418.1:c.1870-1619G>T	ENSP00000499150.1:n.1870-1619G>T
ENST00000306058.9:c.4084G>T	ENSP00000305119.5:p.Val1362Phe
ENST00000375687.8:c.4099G>T	ENSP00000364839.4:p.Val1367Phe
ENST00000613218.4:c.4099G>T	ENSP00000480487.1:p.Val1367Phe
ENST00000620121.4:c.4099G>T	ENSP00000481978.1:p.Val1367Phe
NM_015338.5:c.4099G>T , LRG_630t1:c.4099G>T	NP_056153.2:p.Val1367Phe
XM_006723727.2:c.4096G>T	XP_006723790.1:p.Val1366Phe
XM_006723728.2:c.4069G>T	XP_006723791.1:p.Val1357Phe
XM_006723730.2:c.4015G>T	XP_006723793.1:p.Val1339Phe
XM_006723732.2:c.3916G>T	XP_006723795.1:p.Val1306Phe
XM_006723733.1:c.3415G>T	XP_006723796.1:p.Val1139Phe
XM_011528647.1:c.4363G>T	XP_011526949.1:p.Val1455Phe
XM_011528648.1:c.4360G>T	XP_011526950.1:p.Val1454Phe
XM_011528649.1:c.4279G>T	XP_011526951.1:p.Val1427Phe
XM_011528650.1:c.4210G>T	XP_011526952.1:p.Val1404Phe
XM_011528651.1:c.4078G>T	XP_011526953.1:p.Val1360Phe
XM_011528652.1:c.4015G>T	XP_011526954.1:p.Val1339Phe
NM_001363734.1:c.3916G>T	NP_001350663.1:p.Val1306Phe
XM_006723727.3:c.4096G>T	XP_006723790.1:p.Val1366Phe
XM_006723728.3:c.4069G>T	XP_006723791.1:p.Val1357Phe
XM_006723730.4:c.4015G>T	XP_006723793.1:p.Val1339Phe
XM_011528648.3:c.4360G>T	XP_011526950.1:p.Val1454Phe
XM_011528652.2:c.4015G>T	XP_011526954.1:p.Val1339Phe
XM_017027704.1:c.4015G>T	XP_016883193.1:p.Val1339Phe
XM_017027705.1:c.4015G>T	XP_016883194.1:p.Val1339Phe
XM_017027706.1:c.3946G>T	XP_016883195.1:p.Val1316Phe
NM_015338.6:c.4099G>T MANE Select	NP_056153.2:p.Val1367Phe