Canonical Allele Identifier: CA408563594

Gene: ASXL1

Linked Data

• dbSNP Id: rs74638057
• MyVariant Identifiers: chr20:g.31024207C>A (hg19) ; chr20:g.32436404C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436404C>A , CM000682.2:g.32436404C>A	GRCh38
NC_000020.10:g.31024207C>A , CM000682.1:g.31024207C>A	GRCh37
NC_000020.9:g.30487868C>A	NCBI36
NG_027868.1:g.83061C>A , LRG_630:g.83061C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3692C>A MANE Select	ENSP00000364839.4:p.Ser1231Tyr
ENST00000646985.1:c.3509C>A	ENSP00000495053.1:p.Ser1170Tyr
ENST00000647223.1:n.6045C>A
ENST00000651418.1:c.1869+1823C>A	ENSP00000499150.1:n.1869+1823C>A
ENST00000306058.9:c.3677C>A	ENSP00000305119.5:p.Ser1226Tyr
ENST00000375687.8:c.3692C>A	ENSP00000364839.4:p.Ser1231Tyr
ENST00000613218.4:c.3692C>A	ENSP00000480487.1:p.Ser1231Tyr
ENST00000620121.4:c.3692C>A	ENSP00000481978.1:p.Ser1231Tyr
NM_015338.5:c.3692C>A , LRG_630t1:c.3692C>A	NP_056153.2:p.Ser1231Tyr
XM_006723727.2:c.3689C>A	XP_006723790.1:p.Ser1230Tyr
XM_006723728.2:c.3662C>A	XP_006723791.1:p.Ser1221Tyr
XM_006723730.2:c.3608C>A	XP_006723793.1:p.Ser1203Tyr
XM_006723732.2:c.3509C>A	XP_006723795.1:p.Ser1170Tyr
XM_006723733.1:c.3008C>A	XP_006723796.1:p.Ser1003Tyr
XM_011528647.1:c.3956C>A	XP_011526949.1:p.Ser1319Tyr
XM_011528648.1:c.3953C>A	XP_011526950.1:p.Ser1318Tyr
XM_011528649.1:c.3872C>A	XP_011526951.1:p.Ser1291Tyr
XM_011528650.1:c.3803C>A	XP_011526952.1:p.Ser1268Tyr
XM_011528651.1:c.3671C>A	XP_011526953.1:p.Ser1224Tyr
XM_011528652.1:c.3608C>A	XP_011526954.1:p.Ser1203Tyr
NM_001363734.1:c.3509C>A	NP_001350663.1:p.Ser1170Tyr
XM_006723727.3:c.3689C>A	XP_006723790.1:p.Ser1230Tyr
XM_006723728.3:c.3662C>A	XP_006723791.1:p.Ser1221Tyr
XM_006723730.4:c.3608C>A	XP_006723793.1:p.Ser1203Tyr
XM_011528648.3:c.3953C>A	XP_011526950.1:p.Ser1318Tyr
XM_011528652.2:c.3608C>A	XP_011526954.1:p.Ser1203Tyr
XM_017027704.1:c.3608C>A	XP_016883193.1:p.Ser1203Tyr
XM_017027705.1:c.3608C>A	XP_016883194.1:p.Ser1203Tyr
XM_017027706.1:c.3539C>A	XP_016883195.1:p.Ser1180Tyr
NM_015338.6:c.3692C>A MANE Select	NP_056153.2:p.Ser1231Tyr