Canonical Allele Identifier: CA408562647

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32435954-T-C
• MyVariant Identifiers: chr20:g.31023757T>C (hg19) ; chr20:g.32435954T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435954T>C , CM000682.2:g.32435954T>C	GRCh38
NC_000020.10:g.31023757T>C , CM000682.1:g.31023757T>C	GRCh37
NC_000020.9:g.30487418T>C	NCBI36
NG_027868.1:g.82611T>C , LRG_630:g.82611T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3242T>C MANE Select	ENSP00000364839.4:p.Leu1081Pro
ENST00000646985.1:c.3059T>C	ENSP00000495053.1:p.Leu1020Pro
ENST00000647223.1:n.5595T>C
ENST00000651418.1:c.1869+1373T>C	ENSP00000499150.1:n.1869+1373T>C
ENST00000306058.9:c.3227T>C	ENSP00000305119.5:p.Leu1076Pro
ENST00000375687.8:c.3242T>C	ENSP00000364839.4:p.Leu1081Pro
ENST00000613218.4:c.3242T>C	ENSP00000480487.1:p.Leu1081Pro
ENST00000620121.4:c.3242T>C	ENSP00000481978.1:p.Leu1081Pro
NM_015338.5:c.3242T>C , LRG_630t1:c.3242T>C	NP_056153.2:p.Leu1081Pro
XM_006723727.2:c.3239T>C	XP_006723790.1:p.Leu1080Pro
XM_006723728.2:c.3212T>C	XP_006723791.1:p.Leu1071Pro
XM_006723730.2:c.3158T>C	XP_006723793.1:p.Leu1053Pro
XM_006723732.2:c.3059T>C	XP_006723795.1:p.Leu1020Pro
XM_006723733.1:c.2558T>C	XP_006723796.1:p.Leu853Pro
XM_011528647.1:c.3506T>C	XP_011526949.1:p.Leu1169Pro
XM_011528648.1:c.3503T>C	XP_011526950.1:p.Leu1168Pro
XM_011528649.1:c.3422T>C	XP_011526951.1:p.Leu1141Pro
XM_011528650.1:c.3353T>C	XP_011526952.1:p.Leu1118Pro
XM_011528651.1:c.3221T>C	XP_011526953.1:p.Leu1074Pro
XM_011528652.1:c.3158T>C	XP_011526954.1:p.Leu1053Pro
NM_001363734.1:c.3059T>C	NP_001350663.1:p.Leu1020Pro
XM_006723727.3:c.3239T>C	XP_006723790.1:p.Leu1080Pro
XM_006723728.3:c.3212T>C	XP_006723791.1:p.Leu1071Pro
XM_006723730.4:c.3158T>C	XP_006723793.1:p.Leu1053Pro
XM_011528648.3:c.3503T>C	XP_011526950.1:p.Leu1168Pro
XM_011528652.2:c.3158T>C	XP_011526954.1:p.Leu1053Pro
XM_017027704.1:c.3158T>C	XP_016883193.1:p.Leu1053Pro
XM_017027705.1:c.3158T>C	XP_016883194.1:p.Leu1053Pro
XM_017027706.1:c.3089T>C	XP_016883195.1:p.Leu1030Pro
NM_015338.6:c.3242T>C MANE Select	NP_056153.2:p.Leu1081Pro