Canonical Allele Identifier: CA408564297

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32436743-C-T
• COSMIC: COSM3545264 ; COSM3545265
• MyVariant Identifiers: chr20:g.31024546C>T (hg19) ; chr20:g.32436743C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436743C>T , CM000682.2:g.32436743C>T	GRCh38
NC_000020.10:g.31024546C>T , CM000682.1:g.31024546C>T	GRCh37
NC_000020.9:g.30488207C>T	NCBI36
NG_027868.1:g.83400C>T , LRG_630:g.83400C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4031C>T MANE Select	ENSP00000364839.4:p.Ser1344Phe
ENST00000646985.1:c.3848C>T	ENSP00000495053.1:p.Ser1283Phe
ENST00000647223.1:n.6384C>T
ENST00000651418.1:c.1870-1687C>T	ENSP00000499150.1:n.1870-1687C>T
ENST00000306058.9:c.4016C>T	ENSP00000305119.5:p.Ser1339Phe
ENST00000375687.8:c.4031C>T	ENSP00000364839.4:p.Ser1344Phe
ENST00000613218.4:c.4031C>T	ENSP00000480487.1:p.Ser1344Phe
ENST00000620121.4:c.4031C>T	ENSP00000481978.1:p.Ser1344Phe
NM_015338.5:c.4031C>T , LRG_630t1:c.4031C>T	NP_056153.2:p.Ser1344Phe
XM_006723727.2:c.4028C>T	XP_006723790.1:p.Ser1343Phe
XM_006723728.2:c.4001C>T	XP_006723791.1:p.Ser1334Phe
XM_006723730.2:c.3947C>T	XP_006723793.1:p.Ser1316Phe
XM_006723732.2:c.3848C>T	XP_006723795.1:p.Ser1283Phe
XM_006723733.1:c.3347C>T	XP_006723796.1:p.Ser1116Phe
XM_011528647.1:c.4295C>T	XP_011526949.1:p.Ser1432Phe
XM_011528648.1:c.4292C>T	XP_011526950.1:p.Ser1431Phe
XM_011528649.1:c.4211C>T	XP_011526951.1:p.Ser1404Phe
XM_011528650.1:c.4142C>T	XP_011526952.1:p.Ser1381Phe
XM_011528651.1:c.4010C>T	XP_011526953.1:p.Ser1337Phe
XM_011528652.1:c.3947C>T	XP_011526954.1:p.Ser1316Phe
NM_001363734.1:c.3848C>T	NP_001350663.1:p.Ser1283Phe
XM_006723727.3:c.4028C>T	XP_006723790.1:p.Ser1343Phe
XM_006723728.3:c.4001C>T	XP_006723791.1:p.Ser1334Phe
XM_006723730.4:c.3947C>T	XP_006723793.1:p.Ser1316Phe
XM_011528648.3:c.4292C>T	XP_011526950.1:p.Ser1431Phe
XM_011528652.2:c.3947C>T	XP_011526954.1:p.Ser1316Phe
XM_017027704.1:c.3947C>T	XP_016883193.1:p.Ser1316Phe
XM_017027705.1:c.3947C>T	XP_016883194.1:p.Ser1316Phe
XM_017027706.1:c.3878C>T	XP_016883195.1:p.Ser1293Phe
NM_015338.6:c.4031C>T MANE Select	NP_056153.2:p.Ser1344Phe