Canonical Allele Identifier: CA510467542

Gene: ASXL1

Linked Data

• dbSNP Id: rs1425638772
• gnomAD v2: 20-31024191-C-T
• gnomAD v3: 20-32436388-C-T
• gnomAD v4: 20-32436388-C-T
• MyVariant Identifiers: chr20:g.31024191C>T (hg19) ; chr20:g.32436388C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436388C>T , CM000682.2:g.32436388C>T	GRCh38
NC_000020.10:g.31024191C>T , CM000682.1:g.31024191C>T	GRCh37
NC_000020.9:g.30487852C>T	NCBI36
NG_027868.1:g.83045C>T , LRG_630:g.83045C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3676C>T MANE Select	ENSP00000364839.4:p.Leu1226=
ENST00000646985.1:c.3493C>T	ENSP00000495053.1:p.Leu1165=
ENST00000647223.1:n.6029C>T
ENST00000651418.1:c.1869+1807C>T	ENSP00000499150.1:n.1869+1807C>T
ENST00000306058.9:c.3661C>T	ENSP00000305119.5:p.Leu1221=
ENST00000375687.8:c.3676C>T	ENSP00000364839.4:p.Leu1226=
ENST00000613218.4:c.3676C>T	ENSP00000480487.1:p.Leu1226=
ENST00000620121.4:c.3676C>T	ENSP00000481978.1:p.Leu1226=
NM_015338.5:c.3676C>T , LRG_630t1:c.3676C>T	NP_056153.2:p.Leu1226=
XM_006723727.2:c.3673C>T	XP_006723790.1:p.Leu1225=
XM_006723728.2:c.3646C>T	XP_006723791.1:p.Leu1216=
XM_006723730.2:c.3592C>T	XP_006723793.1:p.Leu1198=
XM_006723732.2:c.3493C>T	XP_006723795.1:p.Leu1165=
XM_006723733.1:c.2992C>T	XP_006723796.1:p.Leu998=
XM_011528647.1:c.3940C>T	XP_011526949.1:p.Leu1314=
XM_011528648.1:c.3937C>T	XP_011526950.1:p.Leu1313=
XM_011528649.1:c.3856C>T	XP_011526951.1:p.Leu1286=
XM_011528650.1:c.3787C>T	XP_011526952.1:p.Leu1263=
XM_011528651.1:c.3655C>T	XP_011526953.1:p.Leu1219=
XM_011528652.1:c.3592C>T	XP_011526954.1:p.Leu1198=
NM_001363734.1:c.3493C>T	NP_001350663.1:p.Leu1165=
XM_006723727.3:c.3673C>T	XP_006723790.1:p.Leu1225=
XM_006723728.3:c.3646C>T	XP_006723791.1:p.Leu1216=
XM_006723730.4:c.3592C>T	XP_006723793.1:p.Leu1198=
XM_011528648.3:c.3937C>T	XP_011526950.1:p.Leu1313=
XM_011528652.2:c.3592C>T	XP_011526954.1:p.Leu1198=
XM_017027704.1:c.3592C>T	XP_016883193.1:p.Leu1198=
XM_017027705.1:c.3592C>T	XP_016883194.1:p.Leu1198=
XM_017027706.1:c.3523C>T	XP_016883195.1:p.Leu1175=
NM_015338.6:c.3676C>T MANE Select	NP_056153.2:p.Leu1226=