Canonical Allele Identifier: CA408563447

Gene: ASXL1

Linked Data

• dbSNP Id: rs2145384721
• MyVariant Identifiers: chr20:g.31024137C>T (hg19) ; chr20:g.32436334C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436334C>T , CM000682.2:g.32436334C>T	GRCh38
NC_000020.10:g.31024137C>T , CM000682.1:g.31024137C>T	GRCh37
NC_000020.9:g.30487798C>T	NCBI36
NG_027868.1:g.82991C>T , LRG_630:g.82991C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3622C>T MANE Select	ENSP00000364839.4:p.Pro1208Ser
ENST00000646985.1:c.3439C>T	ENSP00000495053.1:p.Pro1147Ser
ENST00000647223.1:n.5975C>T
ENST00000651418.1:c.1869+1753C>T	ENSP00000499150.1:n.1869+1753C>T
ENST00000306058.9:c.3607C>T	ENSP00000305119.5:p.Pro1203Ser
ENST00000375687.8:c.3622C>T	ENSP00000364839.4:p.Pro1208Ser
ENST00000613218.4:c.3622C>T	ENSP00000480487.1:p.Pro1208Ser
ENST00000620121.4:c.3622C>T	ENSP00000481978.1:p.Pro1208Ser
NM_015338.5:c.3622C>T , LRG_630t1:c.3622C>T	NP_056153.2:p.Pro1208Ser
XM_006723727.2:c.3619C>T	XP_006723790.1:p.Pro1207Ser
XM_006723728.2:c.3592C>T	XP_006723791.1:p.Pro1198Ser
XM_006723730.2:c.3538C>T	XP_006723793.1:p.Pro1180Ser
XM_006723732.2:c.3439C>T	XP_006723795.1:p.Pro1147Ser
XM_006723733.1:c.2938C>T	XP_006723796.1:p.Pro980Ser
XM_011528647.1:c.3886C>T	XP_011526949.1:p.Pro1296Ser
XM_011528648.1:c.3883C>T	XP_011526950.1:p.Pro1295Ser
XM_011528649.1:c.3802C>T	XP_011526951.1:p.Pro1268Ser
XM_011528650.1:c.3733C>T	XP_011526952.1:p.Pro1245Ser
XM_011528651.1:c.3601C>T	XP_011526953.1:p.Pro1201Ser
XM_011528652.1:c.3538C>T	XP_011526954.1:p.Pro1180Ser
NM_001363734.1:c.3439C>T	NP_001350663.1:p.Pro1147Ser
XM_006723727.3:c.3619C>T	XP_006723790.1:p.Pro1207Ser
XM_006723728.3:c.3592C>T	XP_006723791.1:p.Pro1198Ser
XM_006723730.4:c.3538C>T	XP_006723793.1:p.Pro1180Ser
XM_011528648.3:c.3883C>T	XP_011526950.1:p.Pro1295Ser
XM_011528652.2:c.3538C>T	XP_011526954.1:p.Pro1180Ser
XM_017027704.1:c.3538C>T	XP_016883193.1:p.Pro1180Ser
XM_017027705.1:c.3538C>T	XP_016883194.1:p.Pro1180Ser
XM_017027706.1:c.3469C>T	XP_016883195.1:p.Pro1157Ser
NM_015338.6:c.3622C>T MANE Select	NP_056153.2:p.Pro1208Ser