Canonical Allele Identifier: CA313924519
Community Standard Title: NM_015338.6(ASXL1):c.566-198A>G
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32429703A>G , CM000682.2:g.32429703A>G GRCh38
NC_000020.10:g.31017506A>G , CM000682.1:g.31017506A>G GRCh37
NC_000020.9:g.30481167A>G NCBI36
NG_027868.1:g.76360A>G , LRG_630:g.76360A>G

Transcript Alleles

HGVS Amino-acid Change
NM_015338.6:c.566-198A>G MANE Select NP_056153.2:n.566-198A>G
ENST00000375687.10:c.566-198A>G MANE Select ENSP00000364839.4:n.566-198A>G
NM_001363734.1:c.535+272A>G NP_001350663.1:n.535+272A>G
NM_015338.5:c.566-198A>G , LRG_630t1:c.566-198A>G NP_056153.2:n.566-198A>G
ENST00000306058.9:c.551-198A>G ENSP00000305119.5:n.551-198A>G
ENST00000375687.8:c.566-198A>G ENSP00000364839.4:n.566-198A>G
ENST00000470145.2:n.856A>G
ENST00000470145.3:n.856A>G
ENST00000613218.4:c.566-198A>G ENSP00000480487.1:n.566-198A>G
ENST00000620121.4:c.566-198A>G ENSP00000481978.1:n.566-198A>G
ENST00000646985.1:c.535+272A>G ENSP00000495053.1:n.535+272A>G
ENST00000647223.1:n.940A>G
ENST00000651418.1:c.566-198A>G ENSP00000499150.1:n.566-198A>G
XM_006723727.2:c.563-198A>G XP_006723790.1:n.563-198A>G
XM_006723727.3:c.563-198A>G XP_006723790.1:n.563-198A>G
XM_006723728.2:c.536-198A>G XP_006723791.1:n.536-198A>G
XM_006723728.3:c.536-198A>G XP_006723791.1:n.536-198A>G
XM_006723730.2:c.482-198A>G XP_006723793.1:n.482-198A>G
XM_006723730.4:c.482-198A>G XP_006723793.1:n.482-198A>G
XM_006723732.2:c.535+272A>G XP_006723795.1:n.535+272A>G
XM_011528647.1:c.830-198A>G XP_011526949.1:n.830-198A>G
XM_011528648.1:c.827-198A>G XP_011526950.1:n.827-198A>G
XM_011528648.3:c.827-198A>G XP_011526950.1:n.827-198A>G
XM_011528649.1:c.746-198A>G XP_011526951.1:n.746-198A>G
XM_011528650.1:c.829+272A>G XP_011526952.1:n.829+272A>G
XM_011528651.1:c.545-198A>G XP_011526953.1:n.545-198A>G
XM_011528652.1:c.482-198A>G XP_011526954.1:n.482-198A>G
XM_011528652.2:c.482-198A>G XP_011526954.1:n.482-198A>G
XM_017027704.1:c.482-198A>G XP_016883193.1:n.482-198A>G
XM_017027705.1:c.482-198A>G XP_016883194.1:n.482-198A>G
XM_017027706.1:c.565+272A>G XP_016883195.1:n.565+272A>G