Canonical Allele Identifier: CA408564361

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31024579A>C (hg19) ; chr20:g.32436776A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436776A>C , CM000682.2:g.32436776A>C	GRCh38
NC_000020.10:g.31024579A>C , CM000682.1:g.31024579A>C	GRCh37
NC_000020.9:g.30488240A>C	NCBI36
NG_027868.1:g.83433A>C , LRG_630:g.83433A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4064A>C MANE Select	ENSP00000364839.4:p.Asp1355Ala
ENST00000646985.1:c.3881A>C	ENSP00000495053.1:p.Asp1294Ala
ENST00000647223.1:n.6417A>C
ENST00000651418.1:c.1870-1654A>C	ENSP00000499150.1:n.1870-1654A>C
ENST00000306058.9:c.4049A>C	ENSP00000305119.5:p.Asp1350Ala
ENST00000375687.8:c.4064A>C	ENSP00000364839.4:p.Asp1355Ala
ENST00000613218.4:c.4064A>C	ENSP00000480487.1:p.Asp1355Ala
ENST00000620121.4:c.4064A>C	ENSP00000481978.1:p.Asp1355Ala
NM_015338.5:c.4064A>C , LRG_630t1:c.4064A>C	NP_056153.2:p.Asp1355Ala
XM_006723727.2:c.4061A>C	XP_006723790.1:p.Asp1354Ala
XM_006723728.2:c.4034A>C	XP_006723791.1:p.Asp1345Ala
XM_006723730.2:c.3980A>C	XP_006723793.1:p.Asp1327Ala
XM_006723732.2:c.3881A>C	XP_006723795.1:p.Asp1294Ala
XM_006723733.1:c.3380A>C	XP_006723796.1:p.Asp1127Ala
XM_011528647.1:c.4328A>C	XP_011526949.1:p.Asp1443Ala
XM_011528648.1:c.4325A>C	XP_011526950.1:p.Asp1442Ala
XM_011528649.1:c.4244A>C	XP_011526951.1:p.Asp1415Ala
XM_011528650.1:c.4175A>C	XP_011526952.1:p.Asp1392Ala
XM_011528651.1:c.4043A>C	XP_011526953.1:p.Asp1348Ala
XM_011528652.1:c.3980A>C	XP_011526954.1:p.Asp1327Ala
NM_001363734.1:c.3881A>C	NP_001350663.1:p.Asp1294Ala
XM_006723727.3:c.4061A>C	XP_006723790.1:p.Asp1354Ala
XM_006723728.3:c.4034A>C	XP_006723791.1:p.Asp1345Ala
XM_006723730.4:c.3980A>C	XP_006723793.1:p.Asp1327Ala
XM_011528648.3:c.4325A>C	XP_011526950.1:p.Asp1442Ala
XM_011528652.2:c.3980A>C	XP_011526954.1:p.Asp1327Ala
XM_017027704.1:c.3980A>C	XP_016883193.1:p.Asp1327Ala
XM_017027705.1:c.3980A>C	XP_016883194.1:p.Asp1327Ala
XM_017027706.1:c.3911A>C	XP_016883195.1:p.Asp1304Ala
NM_015338.6:c.4064A>C MANE Select	NP_056153.2:p.Asp1355Ala