Canonical Allele Identifier: CA408563289

Gene: ASXL1

Linked Data

• dbSNP Id: rs2145383297
• MyVariant Identifiers: chr20:g.31024060G>C (hg19) ; chr20:g.32436257G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436257G>C , CM000682.2:g.32436257G>C	GRCh38
NC_000020.10:g.31024060G>C , CM000682.1:g.31024060G>C	GRCh37
NC_000020.9:g.30487721G>C	NCBI36
NG_027868.1:g.82914G>C , LRG_630:g.82914G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375687.10:c.3545G>C MANE Select	ENSP00000364839.4:p.Cys1182Ser
ENST00000646985.1:c.3362G>C	ENSP00000495053.1:p.Cys1121Ser
ENST00000647223.1:n.5898G>C
ENST00000651418.1:c.1869+1676G>C	ENSP00000499150.1:n.1869+1676G>C
ENST00000306058.9:c.3530G>C	ENSP00000305119.5:p.Cys1177Ser
ENST00000375687.8:c.3545G>C	ENSP00000364839.4:p.Cys1182Ser
ENST00000613218.4:c.3545G>C	ENSP00000480487.1:p.Cys1182Ser
ENST00000620121.4:c.3545G>C	ENSP00000481978.1:p.Cys1182Ser
NM_015338.5:c.3545G>C , LRG_630t1:c.3545G>C	NP_056153.2:p.Cys1182Ser
XM_006723727.2:c.3542G>C	XP_006723790.1:p.Cys1181Ser
XM_006723728.2:c.3515G>C	XP_006723791.1:p.Cys1172Ser
XM_006723730.2:c.3461G>C	XP_006723793.1:p.Cys1154Ser
XM_006723732.2:c.3362G>C	XP_006723795.1:p.Cys1121Ser
XM_006723733.1:c.2861G>C	XP_006723796.1:p.Cys954Ser
XM_011528647.1:c.3809G>C	XP_011526949.1:p.Cys1270Ser
XM_011528648.1:c.3806G>C	XP_011526950.1:p.Cys1269Ser
XM_011528649.1:c.3725G>C	XP_011526951.1:p.Cys1242Ser
XM_011528650.1:c.3656G>C	XP_011526952.1:p.Cys1219Ser
XM_011528651.1:c.3524G>C	XP_011526953.1:p.Cys1175Ser
XM_011528652.1:c.3461G>C	XP_011526954.1:p.Cys1154Ser
NM_001363734.1:c.3362G>C	NP_001350663.1:p.Cys1121Ser
XM_006723727.3:c.3542G>C	XP_006723790.1:p.Cys1181Ser
XM_006723728.3:c.3515G>C	XP_006723791.1:p.Cys1172Ser
XM_006723730.4:c.3461G>C	XP_006723793.1:p.Cys1154Ser
XM_011528648.3:c.3806G>C	XP_011526950.1:p.Cys1269Ser
XM_011528652.2:c.3461G>C	XP_011526954.1:p.Cys1154Ser
XM_017027704.1:c.3461G>C	XP_016883193.1:p.Cys1154Ser
XM_017027705.1:c.3461G>C	XP_016883194.1:p.Cys1154Ser
XM_017027706.1:c.3392G>C	XP_016883195.1:p.Cys1131Ser
NM_015338.6:c.3545G>C MANE Select	NP_056153.2:p.Cys1182Ser