Canonical Allele Identifier: CA408564161

Gene: ASXL1

Linked Data

• dbSNP Id: rs1399861829
• gnomAD v4: 20-32436679-A-G
• COSMIC: COSM5762834 ; COSM5762835
• MyVariant Identifiers: chr20:g.31024482A>G (hg19) ; chr20:g.32436679A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436679A>G , CM000682.2:g.32436679A>G	GRCh38
NC_000020.10:g.31024482A>G , CM000682.1:g.31024482A>G	GRCh37
NC_000020.9:g.30488143A>G	NCBI36
NG_027868.1:g.83336A>G , LRG_630:g.83336A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3967A>G MANE Select	ENSP00000364839.4:p.Met1323Val
ENST00000646985.1:c.3784A>G	ENSP00000495053.1:p.Met1262Val
ENST00000647223.1:n.6320A>G
ENST00000651418.1:c.1870-1751A>G	ENSP00000499150.1:n.1870-1751A>G
ENST00000306058.9:c.3952A>G	ENSP00000305119.5:p.Met1318Val
ENST00000375687.8:c.3967A>G	ENSP00000364839.4:p.Met1323Val
ENST00000613218.4:c.3967A>G	ENSP00000480487.1:p.Met1323Val
ENST00000620121.4:c.3967A>G	ENSP00000481978.1:p.Met1323Val
NM_015338.5:c.3967A>G , LRG_630t1:c.3967A>G	NP_056153.2:p.Met1323Val
XM_006723727.2:c.3964A>G	XP_006723790.1:p.Met1322Val
XM_006723728.2:c.3937A>G	XP_006723791.1:p.Met1313Val
XM_006723730.2:c.3883A>G	XP_006723793.1:p.Met1295Val
XM_006723732.2:c.3784A>G	XP_006723795.1:p.Met1262Val
XM_006723733.1:c.3283A>G	XP_006723796.1:p.Met1095Val
XM_011528647.1:c.4231A>G	XP_011526949.1:p.Met1411Val
XM_011528648.1:c.4228A>G	XP_011526950.1:p.Met1410Val
XM_011528649.1:c.4147A>G	XP_011526951.1:p.Met1383Val
XM_011528650.1:c.4078A>G	XP_011526952.1:p.Met1360Val
XM_011528651.1:c.3946A>G	XP_011526953.1:p.Met1316Val
XM_011528652.1:c.3883A>G	XP_011526954.1:p.Met1295Val
NM_001363734.1:c.3784A>G	NP_001350663.1:p.Met1262Val
XM_006723727.3:c.3964A>G	XP_006723790.1:p.Met1322Val
XM_006723728.3:c.3937A>G	XP_006723791.1:p.Met1313Val
XM_006723730.4:c.3883A>G	XP_006723793.1:p.Met1295Val
XM_011528648.3:c.4228A>G	XP_011526950.1:p.Met1410Val
XM_011528652.2:c.3883A>G	XP_011526954.1:p.Met1295Val
XM_017027704.1:c.3883A>G	XP_016883193.1:p.Met1295Val
XM_017027705.1:c.3883A>G	XP_016883194.1:p.Met1295Val
XM_017027706.1:c.3814A>G	XP_016883195.1:p.Met1272Val
NM_015338.6:c.3967A>G MANE Select	NP_056153.2:p.Met1323Val