Canonical Allele Identifier: CA408562810

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32436031-C-T
• COSMIC: COSM1155718
• MyVariant Identifiers: chr20:g.31023834C>T (hg19) ; chr20:g.32436031C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436031C>T , CM000682.2:g.32436031C>T	GRCh38
NC_000020.10:g.31023834C>T , CM000682.1:g.31023834C>T	GRCh37
NC_000020.9:g.30487495C>T	NCBI36
NG_027868.1:g.82688C>T , LRG_630:g.82688C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3319C>T MANE Select	ENSP00000364839.4:p.Leu1107Phe
ENST00000646985.1:c.3136C>T	ENSP00000495053.1:p.Leu1046Phe
ENST00000647223.1:n.5672C>T
ENST00000651418.1:c.1869+1450C>T	ENSP00000499150.1:n.1869+1450C>T
ENST00000306058.9:c.3304C>T	ENSP00000305119.5:p.Leu1102Phe
ENST00000375687.8:c.3319C>T	ENSP00000364839.4:p.Leu1107Phe
ENST00000613218.4:c.3319C>T	ENSP00000480487.1:p.Leu1107Phe
ENST00000620121.4:c.3319C>T	ENSP00000481978.1:p.Leu1107Phe
NM_015338.5:c.3319C>T , LRG_630t1:c.3319C>T	NP_056153.2:p.Leu1107Phe
XM_006723727.2:c.3316C>T	XP_006723790.1:p.Leu1106Phe
XM_006723728.2:c.3289C>T	XP_006723791.1:p.Leu1097Phe
XM_006723730.2:c.3235C>T	XP_006723793.1:p.Leu1079Phe
XM_006723732.2:c.3136C>T	XP_006723795.1:p.Leu1046Phe
XM_006723733.1:c.2635C>T	XP_006723796.1:p.Leu879Phe
XM_011528647.1:c.3583C>T	XP_011526949.1:p.Leu1195Phe
XM_011528648.1:c.3580C>T	XP_011526950.1:p.Leu1194Phe
XM_011528649.1:c.3499C>T	XP_011526951.1:p.Leu1167Phe
XM_011528650.1:c.3430C>T	XP_011526952.1:p.Leu1144Phe
XM_011528651.1:c.3298C>T	XP_011526953.1:p.Leu1100Phe
XM_011528652.1:c.3235C>T	XP_011526954.1:p.Leu1079Phe
NM_001363734.1:c.3136C>T	NP_001350663.1:p.Leu1046Phe
XM_006723727.3:c.3316C>T	XP_006723790.1:p.Leu1106Phe
XM_006723728.3:c.3289C>T	XP_006723791.1:p.Leu1097Phe
XM_006723730.4:c.3235C>T	XP_006723793.1:p.Leu1079Phe
XM_011528648.3:c.3580C>T	XP_011526950.1:p.Leu1194Phe
XM_011528652.2:c.3235C>T	XP_011526954.1:p.Leu1079Phe
XM_017027704.1:c.3235C>T	XP_016883193.1:p.Leu1079Phe
XM_017027705.1:c.3235C>T	XP_016883194.1:p.Leu1079Phe
XM_017027706.1:c.3166C>T	XP_016883195.1:p.Leu1056Phe
NM_015338.6:c.3319C>T MANE Select	NP_056153.2:p.Leu1107Phe