Canonical Allele Identifier: CA408563356

Gene: ASXL1

Linked Data

• dbSNP Id: rs2145383966
• gnomAD v4: 20-32436292-A-C
• MyVariant Identifiers: chr20:g.31024095A>C (hg19) ; chr20:g.32436292A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436292A>C , CM000682.2:g.32436292A>C	GRCh38
NC_000020.10:g.31024095A>C , CM000682.1:g.31024095A>C	GRCh37
NC_000020.9:g.30487756A>C	NCBI36
NG_027868.1:g.82949A>C , LRG_630:g.82949A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3580A>C MANE Select	ENSP00000364839.4:p.Thr1194Pro
ENST00000646985.1:c.3397A>C	ENSP00000495053.1:p.Thr1133Pro
ENST00000647223.1:n.5933A>C
ENST00000651418.1:c.1869+1711A>C	ENSP00000499150.1:n.1869+1711A>C
ENST00000306058.9:c.3565A>C	ENSP00000305119.5:p.Thr1189Pro
ENST00000375687.8:c.3580A>C	ENSP00000364839.4:p.Thr1194Pro
ENST00000613218.4:c.3580A>C	ENSP00000480487.1:p.Thr1194Pro
ENST00000620121.4:c.3580A>C	ENSP00000481978.1:p.Thr1194Pro
NM_015338.5:c.3580A>C , LRG_630t1:c.3580A>C	NP_056153.2:p.Thr1194Pro
XM_006723727.2:c.3577A>C	XP_006723790.1:p.Thr1193Pro
XM_006723728.2:c.3550A>C	XP_006723791.1:p.Thr1184Pro
XM_006723730.2:c.3496A>C	XP_006723793.1:p.Thr1166Pro
XM_006723732.2:c.3397A>C	XP_006723795.1:p.Thr1133Pro
XM_006723733.1:c.2896A>C	XP_006723796.1:p.Thr966Pro
XM_011528647.1:c.3844A>C	XP_011526949.1:p.Thr1282Pro
XM_011528648.1:c.3841A>C	XP_011526950.1:p.Thr1281Pro
XM_011528649.1:c.3760A>C	XP_011526951.1:p.Thr1254Pro
XM_011528650.1:c.3691A>C	XP_011526952.1:p.Thr1231Pro
XM_011528651.1:c.3559A>C	XP_011526953.1:p.Thr1187Pro
XM_011528652.1:c.3496A>C	XP_011526954.1:p.Thr1166Pro
NM_001363734.1:c.3397A>C	NP_001350663.1:p.Thr1133Pro
XM_006723727.3:c.3577A>C	XP_006723790.1:p.Thr1193Pro
XM_006723728.3:c.3550A>C	XP_006723791.1:p.Thr1184Pro
XM_006723730.4:c.3496A>C	XP_006723793.1:p.Thr1166Pro
XM_011528648.3:c.3841A>C	XP_011526950.1:p.Thr1281Pro
XM_011528652.2:c.3496A>C	XP_011526954.1:p.Thr1166Pro
XM_017027704.1:c.3496A>C	XP_016883193.1:p.Thr1166Pro
XM_017027705.1:c.3496A>C	XP_016883194.1:p.Thr1166Pro
XM_017027706.1:c.3427A>C	XP_016883195.1:p.Thr1143Pro
NM_015338.6:c.3580A>C MANE Select	NP_056153.2:p.Thr1194Pro