Canonical Allele Identifier: CA408562625

Gene: ASXL1

Linked Data

• dbSNP Id: rs1569335478
• MyVariant Identifiers: chr20:g.31023745C>A (hg19) ; chr20:g.32435942C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435942C>A , CM000682.2:g.32435942C>A	GRCh38
NC_000020.10:g.31023745C>A , CM000682.1:g.31023745C>A	GRCh37
NC_000020.9:g.30487406C>A	NCBI36
NG_027868.1:g.82599C>A , LRG_630:g.82599C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3230C>A MANE Select	ENSP00000364839.4:p.Pro1077Gln
ENST00000646985.1:c.3047C>A	ENSP00000495053.1:p.Pro1016Gln
ENST00000647223.1:n.5583C>A
ENST00000651418.1:c.1869+1361C>A	ENSP00000499150.1:n.1869+1361C>A
ENST00000306058.9:c.3215C>A	ENSP00000305119.5:p.Pro1072Gln
ENST00000375687.8:c.3230C>A	ENSP00000364839.4:p.Pro1077Gln
ENST00000613218.4:c.3230C>A	ENSP00000480487.1:p.Pro1077Gln
ENST00000620121.4:c.3230C>A	ENSP00000481978.1:p.Pro1077Gln
NM_015338.5:c.3230C>A , LRG_630t1:c.3230C>A	NP_056153.2:p.Pro1077Gln
XM_006723727.2:c.3227C>A	XP_006723790.1:p.Pro1076Gln
XM_006723728.2:c.3200C>A	XP_006723791.1:p.Pro1067Gln
XM_006723730.2:c.3146C>A	XP_006723793.1:p.Pro1049Gln
XM_006723732.2:c.3047C>A	XP_006723795.1:p.Pro1016Gln
XM_006723733.1:c.2546C>A	XP_006723796.1:p.Pro849Gln
XM_011528647.1:c.3494C>A	XP_011526949.1:p.Pro1165Gln
XM_011528648.1:c.3491C>A	XP_011526950.1:p.Pro1164Gln
XM_011528649.1:c.3410C>A	XP_011526951.1:p.Pro1137Gln
XM_011528650.1:c.3341C>A	XP_011526952.1:p.Pro1114Gln
XM_011528651.1:c.3209C>A	XP_011526953.1:p.Pro1070Gln
XM_011528652.1:c.3146C>A	XP_011526954.1:p.Pro1049Gln
NM_001363734.1:c.3047C>A	NP_001350663.1:p.Pro1016Gln
XM_006723727.3:c.3227C>A	XP_006723790.1:p.Pro1076Gln
XM_006723728.3:c.3200C>A	XP_006723791.1:p.Pro1067Gln
XM_006723730.4:c.3146C>A	XP_006723793.1:p.Pro1049Gln
XM_011528648.3:c.3491C>A	XP_011526950.1:p.Pro1164Gln
XM_011528652.2:c.3146C>A	XP_011526954.1:p.Pro1049Gln
XM_017027704.1:c.3146C>A	XP_016883193.1:p.Pro1049Gln
XM_017027705.1:c.3146C>A	XP_016883194.1:p.Pro1049Gln
XM_017027706.1:c.3077C>A	XP_016883195.1:p.Pro1026Gln
NM_015338.6:c.3230C>A MANE Select	NP_056153.2:p.Pro1077Gln