Canonical Allele Identifier: CA408564178
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436686T>C , CM000682.2:g.32436686T>C GRCh38
NC_000020.10:g.31024489T>C , CM000682.1:g.31024489T>C GRCh37
NC_000020.9:g.30488150T>C NCBI36
NG_027868.1:g.83343T>C , LRG_630:g.83343T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3974T>C MANE Select ENSP00000364839.4:p.Leu1325Pro
ENST00000646985.1:c.3791T>C ENSP00000495053.1:p.Leu1264Pro
ENST00000647223.1:n.6327T>C
ENST00000651418.1:c.1870-1744T>C ENSP00000499150.1:n.1870-1744T>C
ENST00000306058.9:c.3959T>C ENSP00000305119.5:p.Leu1320Pro
ENST00000375687.8:c.3974T>C ENSP00000364839.4:p.Leu1325Pro
ENST00000613218.4:c.3974T>C ENSP00000480487.1:p.Leu1325Pro
ENST00000620121.4:c.3974T>C ENSP00000481978.1:p.Leu1325Pro
NM_015338.5:c.3974T>C , LRG_630t1:c.3974T>C NP_056153.2:p.Leu1325Pro
XM_006723727.2:c.3971T>C XP_006723790.1:p.Leu1324Pro
XM_006723728.2:c.3944T>C XP_006723791.1:p.Leu1315Pro
XM_006723730.2:c.3890T>C XP_006723793.1:p.Leu1297Pro
XM_006723732.2:c.3791T>C XP_006723795.1:p.Leu1264Pro
XM_006723733.1:c.3290T>C XP_006723796.1:p.Leu1097Pro
XM_011528647.1:c.4238T>C XP_011526949.1:p.Leu1413Pro
XM_011528648.1:c.4235T>C XP_011526950.1:p.Leu1412Pro
XM_011528649.1:c.4154T>C XP_011526951.1:p.Leu1385Pro
XM_011528650.1:c.4085T>C XP_011526952.1:p.Leu1362Pro
XM_011528651.1:c.3953T>C XP_011526953.1:p.Leu1318Pro
XM_011528652.1:c.3890T>C XP_011526954.1:p.Leu1297Pro
NM_001363734.1:c.3791T>C NP_001350663.1:p.Leu1264Pro
XM_006723727.3:c.3971T>C XP_006723790.1:p.Leu1324Pro
XM_006723728.3:c.3944T>C XP_006723791.1:p.Leu1315Pro
XM_006723730.4:c.3890T>C XP_006723793.1:p.Leu1297Pro
XM_011528648.3:c.4235T>C XP_011526950.1:p.Leu1412Pro
XM_011528652.2:c.3890T>C XP_011526954.1:p.Leu1297Pro
XM_017027704.1:c.3890T>C XP_016883193.1:p.Leu1297Pro
XM_017027705.1:c.3890T>C XP_016883194.1:p.Leu1297Pro
XM_017027706.1:c.3821T>C XP_016883195.1:p.Leu1274Pro
NM_015338.6:c.3974T>C MANE Select NP_056153.2:p.Leu1325Pro