Canonical Allele Identifier: CA510200541
Gene: ASXL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.31016222A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32428419A>C , CM000682.2:g.32428419A>C GRCh38
NC_000020.10:g.31016222A>C , CM000682.1:g.31016222A>C GRCh37
NC_000020.9:g.30479883A>C NCBI36
NG_027868.1:g.75076A>C , LRG_630:g.75076A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.468A>C MANE Select ENSP00000364839.4:p.Ser156=
ENST00000470145.3:n.487A>C
ENST00000643168.1:c.384A>C ENSP00000495003.1:p.Ser128=
ENST00000644587.1:c.*307A>C ENSP00000494813.1:n.*307A>C
ENST00000644615.1:n.172A>C
ENST00000645514.1:n.292A>C
ENST00000646985.1:c.438A>C ENSP00000495053.1:p.Ser146=
ENST00000651418.1:c.468A>C ENSP00000499150.1:p.Ser156=
ENST00000306058.9:c.453A>C ENSP00000305119.5:p.Ser151=
ENST00000375687.8:c.468A>C ENSP00000364839.4:p.Ser156=
ENST00000470145.2:n.487A>C
ENST00000613218.4:c.468A>C ENSP00000480487.1:p.Ser156=
ENST00000620121.4:c.468A>C ENSP00000481978.1:p.Ser156=
NM_015338.5:c.468A>C , LRG_630t1:c.468A>C NP_056153.2:p.Ser156=
XM_006723727.2:c.465A>C XP_006723790.1:p.Ser155=
XM_006723728.2:c.438A>C XP_006723791.1:p.Ser146=
XM_006723730.2:c.384A>C XP_006723793.1:p.Ser128=
XM_006723732.2:c.438A>C XP_006723795.1:p.Ser146=
XM_011528647.1:c.732A>C XP_011526949.1:p.Ser244=
XM_011528648.1:c.729A>C XP_011526950.1:p.Ser243=
XM_011528649.1:c.648A>C XP_011526951.1:p.Ser216=
XM_011528650.1:c.732A>C XP_011526952.1:p.Ser244=
XM_011528651.1:c.447A>C XP_011526953.1:p.Ser149=
XM_011528652.1:c.384A>C XP_011526954.1:p.Ser128=
NM_001363734.1:c.438A>C NP_001350663.1:p.Ser146=
XM_006723727.3:c.465A>C XP_006723790.1:p.Ser155=
XM_006723728.3:c.438A>C XP_006723791.1:p.Ser146=
XM_006723730.4:c.384A>C XP_006723793.1:p.Ser128=
XM_011528648.3:c.729A>C XP_011526950.1:p.Ser243=
XM_011528652.2:c.384A>C XP_011526954.1:p.Ser128=
XM_017027704.1:c.384A>C XP_016883193.1:p.Ser128=
XM_017027705.1:c.384A>C XP_016883194.1:p.Ser128=
XM_017027706.1:c.468A>C XP_016883195.1:p.Ser156=
NM_015338.6:c.468A>C MANE Select NP_056153.2:p.Ser156=