Canonical Allele Identifier: CA408564442

Gene: ASXL1

Linked Data

• dbSNP Id: rs2145392209
• MyVariant Identifiers: chr20:g.31024615T>C (hg19) ; chr20:g.32436812T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436812T>C , CM000682.2:g.32436812T>C	GRCh38
NC_000020.10:g.31024615T>C , CM000682.1:g.31024615T>C	GRCh37
NC_000020.9:g.30488276T>C	NCBI36
NG_027868.1:g.83469T>C , LRG_630:g.83469T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4100T>C MANE Select	ENSP00000364839.4:p.Val1367Ala
ENST00000646985.1:c.3917T>C	ENSP00000495053.1:p.Val1306Ala
ENST00000647223.1:n.6453T>C
ENST00000651418.1:c.1870-1618T>C	ENSP00000499150.1:n.1870-1618T>C
ENST00000306058.9:c.4085T>C	ENSP00000305119.5:p.Val1362Ala
ENST00000375687.8:c.4100T>C	ENSP00000364839.4:p.Val1367Ala
ENST00000613218.4:c.4100T>C	ENSP00000480487.1:p.Val1367Ala
ENST00000620121.4:c.4100T>C	ENSP00000481978.1:p.Val1367Ala
NM_015338.5:c.4100T>C , LRG_630t1:c.4100T>C	NP_056153.2:p.Val1367Ala
XM_006723727.2:c.4097T>C	XP_006723790.1:p.Val1366Ala
XM_006723728.2:c.4070T>C	XP_006723791.1:p.Val1357Ala
XM_006723730.2:c.4016T>C	XP_006723793.1:p.Val1339Ala
XM_006723732.2:c.3917T>C	XP_006723795.1:p.Val1306Ala
XM_006723733.1:c.3416T>C	XP_006723796.1:p.Val1139Ala
XM_011528647.1:c.4364T>C	XP_011526949.1:p.Val1455Ala
XM_011528648.1:c.4361T>C	XP_011526950.1:p.Val1454Ala
XM_011528649.1:c.4280T>C	XP_011526951.1:p.Val1427Ala
XM_011528650.1:c.4211T>C	XP_011526952.1:p.Val1404Ala
XM_011528651.1:c.4079T>C	XP_011526953.1:p.Val1360Ala
XM_011528652.1:c.4016T>C	XP_011526954.1:p.Val1339Ala
NM_001363734.1:c.3917T>C	NP_001350663.1:p.Val1306Ala
XM_006723727.3:c.4097T>C	XP_006723790.1:p.Val1366Ala
XM_006723728.3:c.4070T>C	XP_006723791.1:p.Val1357Ala
XM_006723730.4:c.4016T>C	XP_006723793.1:p.Val1339Ala
XM_011528648.3:c.4361T>C	XP_011526950.1:p.Val1454Ala
XM_011528652.2:c.4016T>C	XP_011526954.1:p.Val1339Ala
XM_017027704.1:c.4016T>C	XP_016883193.1:p.Val1339Ala
XM_017027705.1:c.4016T>C	XP_016883194.1:p.Val1339Ala
XM_017027706.1:c.3947T>C	XP_016883195.1:p.Val1316Ala
NM_015338.6:c.4100T>C MANE Select	NP_056153.2:p.Val1367Ala