Canonical Allele Identifier: CA408562549

Gene: ASXL1

Linked Data

• dbSNP Id: rs1353911031
• gnomAD v2: 20-31023708-T-C
• gnomAD v4: 20-32435905-T-C
• MyVariant Identifiers: chr20:g.31023708T>C (hg19) ; chr20:g.32435905T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435905T>C , CM000682.2:g.32435905T>C	GRCh38
NC_000020.10:g.31023708T>C , CM000682.1:g.31023708T>C	GRCh37
NC_000020.9:g.30487369T>C	NCBI36
NG_027868.1:g.82562T>C , LRG_630:g.82562T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3193T>C MANE Select	ENSP00000364839.4:p.Trp1065Arg
ENST00000646985.1:c.3010T>C	ENSP00000495053.1:p.Trp1004Arg
ENST00000647223.1:n.5546T>C
ENST00000651418.1:c.1869+1324T>C	ENSP00000499150.1:n.1869+1324T>C
ENST00000306058.9:c.3178T>C	ENSP00000305119.5:p.Trp1060Arg
ENST00000375687.8:c.3193T>C	ENSP00000364839.4:p.Trp1065Arg
ENST00000613218.4:c.3193T>C	ENSP00000480487.1:p.Trp1065Arg
ENST00000620121.4:c.3193T>C	ENSP00000481978.1:p.Trp1065Arg
NM_015338.5:c.3193T>C , LRG_630t1:c.3193T>C	NP_056153.2:p.Trp1065Arg
XM_006723727.2:c.3190T>C	XP_006723790.1:p.Trp1064Arg
XM_006723728.2:c.3163T>C	XP_006723791.1:p.Trp1055Arg
XM_006723730.2:c.3109T>C	XP_006723793.1:p.Trp1037Arg
XM_006723732.2:c.3010T>C	XP_006723795.1:p.Trp1004Arg
XM_006723733.1:c.2509T>C	XP_006723796.1:p.Trp837Arg
XM_011528647.1:c.3457T>C	XP_011526949.1:p.Trp1153Arg
XM_011528648.1:c.3454T>C	XP_011526950.1:p.Trp1152Arg
XM_011528649.1:c.3373T>C	XP_011526951.1:p.Trp1125Arg
XM_011528650.1:c.3304T>C	XP_011526952.1:p.Trp1102Arg
XM_011528651.1:c.3172T>C	XP_011526953.1:p.Trp1058Arg
XM_011528652.1:c.3109T>C	XP_011526954.1:p.Trp1037Arg
NM_001363734.1:c.3010T>C	NP_001350663.1:p.Trp1004Arg
XM_006723727.3:c.3190T>C	XP_006723790.1:p.Trp1064Arg
XM_006723728.3:c.3163T>C	XP_006723791.1:p.Trp1055Arg
XM_006723730.4:c.3109T>C	XP_006723793.1:p.Trp1037Arg
XM_011528648.3:c.3454T>C	XP_011526950.1:p.Trp1152Arg
XM_011528652.2:c.3109T>C	XP_011526954.1:p.Trp1037Arg
XM_017027704.1:c.3109T>C	XP_016883193.1:p.Trp1037Arg
XM_017027705.1:c.3109T>C	XP_016883194.1:p.Trp1037Arg
XM_017027706.1:c.3040T>C	XP_016883195.1:p.Trp1014Arg
NM_015338.6:c.3193T>C MANE Select	NP_056153.2:p.Trp1065Arg