Canonical Allele Identifier: CA408563002

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31023924C>T (hg19) ; chr20:g.32436121C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436121C>T , CM000682.2:g.32436121C>T	GRCh38
NC_000020.10:g.31023924C>T , CM000682.1:g.31023924C>T	GRCh37
NC_000020.9:g.30487585C>T	NCBI36
NG_027868.1:g.82778C>T , LRG_630:g.82778C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3409C>T MANE Select	ENSP00000364839.4:p.Pro1137Ser
ENST00000646985.1:c.3226C>T	ENSP00000495053.1:p.Pro1076Ser
ENST00000647223.1:n.5762C>T
ENST00000651418.1:c.1869+1540C>T	ENSP00000499150.1:n.1869+1540C>T
ENST00000306058.9:c.3394C>T	ENSP00000305119.5:p.Pro1132Ser
ENST00000375687.8:c.3409C>T	ENSP00000364839.4:p.Pro1137Ser
ENST00000613218.4:c.3409C>T	ENSP00000480487.1:p.Pro1137Ser
ENST00000620121.4:c.3409C>T	ENSP00000481978.1:p.Pro1137Ser
NM_015338.5:c.3409C>T , LRG_630t1:c.3409C>T	NP_056153.2:p.Pro1137Ser
XM_006723727.2:c.3406C>T	XP_006723790.1:p.Pro1136Ser
XM_006723728.2:c.3379C>T	XP_006723791.1:p.Pro1127Ser
XM_006723730.2:c.3325C>T	XP_006723793.1:p.Pro1109Ser
XM_006723732.2:c.3226C>T	XP_006723795.1:p.Pro1076Ser
XM_006723733.1:c.2725C>T	XP_006723796.1:p.Pro909Ser
XM_011528647.1:c.3673C>T	XP_011526949.1:p.Pro1225Ser
XM_011528648.1:c.3670C>T	XP_011526950.1:p.Pro1224Ser
XM_011528649.1:c.3589C>T	XP_011526951.1:p.Pro1197Ser
XM_011528650.1:c.3520C>T	XP_011526952.1:p.Pro1174Ser
XM_011528651.1:c.3388C>T	XP_011526953.1:p.Pro1130Ser
XM_011528652.1:c.3325C>T	XP_011526954.1:p.Pro1109Ser
NM_001363734.1:c.3226C>T	NP_001350663.1:p.Pro1076Ser
XM_006723727.3:c.3406C>T	XP_006723790.1:p.Pro1136Ser
XM_006723728.3:c.3379C>T	XP_006723791.1:p.Pro1127Ser
XM_006723730.4:c.3325C>T	XP_006723793.1:p.Pro1109Ser
XM_011528648.3:c.3670C>T	XP_011526950.1:p.Pro1224Ser
XM_011528652.2:c.3325C>T	XP_011526954.1:p.Pro1109Ser
XM_017027704.1:c.3325C>T	XP_016883193.1:p.Pro1109Ser
XM_017027705.1:c.3325C>T	XP_016883194.1:p.Pro1109Ser
XM_017027706.1:c.3256C>T	XP_016883195.1:p.Pro1086Ser
NM_015338.6:c.3409C>T MANE Select	NP_056153.2:p.Pro1137Ser