Canonical Allele Identifier: CA510467445

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31024367A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436564A>C , CM000682.2:g.32436564A>C	GRCh38
NC_000020.10:g.31024367A>C , CM000682.1:g.31024367A>C	GRCh37
NC_000020.9:g.30488028A>C	NCBI36
NG_027868.1:g.83221A>C , LRG_630:g.83221A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3852A>C MANE Select	ENSP00000364839.4:p.Pro1284=
ENST00000646985.1:c.3669A>C	ENSP00000495053.1:p.Pro1223=
ENST00000647223.1:n.6205A>C
ENST00000651418.1:c.1870-1866A>C	ENSP00000499150.1:n.1870-1866A>C
ENST00000306058.9:c.3837A>C	ENSP00000305119.5:p.Pro1279=
ENST00000375687.8:c.3852A>C	ENSP00000364839.4:p.Pro1284=
ENST00000613218.4:c.3852A>C	ENSP00000480487.1:p.Pro1284=
ENST00000620121.4:c.3852A>C	ENSP00000481978.1:p.Pro1284=
NM_015338.5:c.3852A>C , LRG_630t1:c.3852A>C	NP_056153.2:p.Pro1284=
XM_006723727.2:c.3849A>C	XP_006723790.1:p.Pro1283=
XM_006723728.2:c.3822A>C	XP_006723791.1:p.Pro1274=
XM_006723730.2:c.3768A>C	XP_006723793.1:p.Pro1256=
XM_006723732.2:c.3669A>C	XP_006723795.1:p.Pro1223=
XM_006723733.1:c.3168A>C	XP_006723796.1:p.Pro1056=
XM_011528647.1:c.4116A>C	XP_011526949.1:p.Pro1372=
XM_011528648.1:c.4113A>C	XP_011526950.1:p.Pro1371=
XM_011528649.1:c.4032A>C	XP_011526951.1:p.Pro1344=
XM_011528650.1:c.3963A>C	XP_011526952.1:p.Pro1321=
XM_011528651.1:c.3831A>C	XP_011526953.1:p.Pro1277=
XM_011528652.1:c.3768A>C	XP_011526954.1:p.Pro1256=
NM_001363734.1:c.3669A>C	NP_001350663.1:p.Pro1223=
XM_006723727.3:c.3849A>C	XP_006723790.1:p.Pro1283=
XM_006723728.3:c.3822A>C	XP_006723791.1:p.Pro1274=
XM_006723730.4:c.3768A>C	XP_006723793.1:p.Pro1256=
XM_011528648.3:c.4113A>C	XP_011526950.1:p.Pro1371=
XM_011528652.2:c.3768A>C	XP_011526954.1:p.Pro1256=
XM_017027704.1:c.3768A>C	XP_016883193.1:p.Pro1256=
XM_017027705.1:c.3768A>C	XP_016883194.1:p.Pro1256=
XM_017027706.1:c.3699A>C	XP_016883195.1:p.Pro1233=
NM_015338.6:c.3852A>C MANE Select	NP_056153.2:p.Pro1284=