Canonical Allele Identifier: CA408563267

Gene: ASXL1

Linked Data

• dbSNP Id: rs2145383064
• MyVariant Identifiers: chr20:g.31024050C>G (hg19) ; chr20:g.32436247C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436247C>G , CM000682.2:g.32436247C>G	GRCh38
NC_000020.10:g.31024050C>G , CM000682.1:g.31024050C>G	GRCh37
NC_000020.9:g.30487711C>G	NCBI36
NG_027868.1:g.82904C>G , LRG_630:g.82904C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375687.10:c.3535C>G MANE Select	ENSP00000364839.4:p.Pro1179Ala
ENST00000646985.1:c.3352C>G	ENSP00000495053.1:p.Pro1118Ala
ENST00000647223.1:n.5888C>G
ENST00000651418.1:c.1869+1666C>G	ENSP00000499150.1:n.1869+1666C>G
ENST00000306058.9:c.3520C>G	ENSP00000305119.5:p.Pro1174Ala
ENST00000375687.8:c.3535C>G	ENSP00000364839.4:p.Pro1179Ala
ENST00000613218.4:c.3535C>G	ENSP00000480487.1:p.Pro1179Ala
ENST00000620121.4:c.3535C>G	ENSP00000481978.1:p.Pro1179Ala
NM_015338.5:c.3535C>G , LRG_630t1:c.3535C>G	NP_056153.2:p.Pro1179Ala
XM_006723727.2:c.3532C>G	XP_006723790.1:p.Pro1178Ala
XM_006723728.2:c.3505C>G	XP_006723791.1:p.Pro1169Ala
XM_006723730.2:c.3451C>G	XP_006723793.1:p.Pro1151Ala
XM_006723732.2:c.3352C>G	XP_006723795.1:p.Pro1118Ala
XM_006723733.1:c.2851C>G	XP_006723796.1:p.Pro951Ala
XM_011528647.1:c.3799C>G	XP_011526949.1:p.Pro1267Ala
XM_011528648.1:c.3796C>G	XP_011526950.1:p.Pro1266Ala
XM_011528649.1:c.3715C>G	XP_011526951.1:p.Pro1239Ala
XM_011528650.1:c.3646C>G	XP_011526952.1:p.Pro1216Ala
XM_011528651.1:c.3514C>G	XP_011526953.1:p.Pro1172Ala
XM_011528652.1:c.3451C>G	XP_011526954.1:p.Pro1151Ala
NM_001363734.1:c.3352C>G	NP_001350663.1:p.Pro1118Ala
XM_006723727.3:c.3532C>G	XP_006723790.1:p.Pro1178Ala
XM_006723728.3:c.3505C>G	XP_006723791.1:p.Pro1169Ala
XM_006723730.4:c.3451C>G	XP_006723793.1:p.Pro1151Ala
XM_011528648.3:c.3796C>G	XP_011526950.1:p.Pro1266Ala
XM_011528652.2:c.3451C>G	XP_011526954.1:p.Pro1151Ala
XM_017027704.1:c.3451C>G	XP_016883193.1:p.Pro1151Ala
XM_017027705.1:c.3451C>G	XP_016883194.1:p.Pro1151Ala
XM_017027706.1:c.3382C>G	XP_016883195.1:p.Pro1128Ala
NM_015338.6:c.3535C>G MANE Select	NP_056153.2:p.Pro1179Ala