Canonical Allele Identifier: CA408564424

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31024606T>C (hg19) ; chr20:g.32436803T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436803T>C , CM000682.2:g.32436803T>C	GRCh38
NC_000020.10:g.31024606T>C , CM000682.1:g.31024606T>C	GRCh37
NC_000020.9:g.30488267T>C	NCBI36
NG_027868.1:g.83460T>C , LRG_630:g.83460T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4091T>C MANE Select	ENSP00000364839.4:p.Val1364Ala
ENST00000646985.1:c.3908T>C	ENSP00000495053.1:p.Val1303Ala
ENST00000647223.1:n.6444T>C
ENST00000651418.1:c.1870-1627T>C	ENSP00000499150.1:n.1870-1627T>C
ENST00000306058.9:c.4076T>C	ENSP00000305119.5:p.Val1359Ala
ENST00000375687.8:c.4091T>C	ENSP00000364839.4:p.Val1364Ala
ENST00000613218.4:c.4091T>C	ENSP00000480487.1:p.Val1364Ala
ENST00000620121.4:c.4091T>C	ENSP00000481978.1:p.Val1364Ala
NM_015338.5:c.4091T>C , LRG_630t1:c.4091T>C	NP_056153.2:p.Val1364Ala
XM_006723727.2:c.4088T>C	XP_006723790.1:p.Val1363Ala
XM_006723728.2:c.4061T>C	XP_006723791.1:p.Val1354Ala
XM_006723730.2:c.4007T>C	XP_006723793.1:p.Val1336Ala
XM_006723732.2:c.3908T>C	XP_006723795.1:p.Val1303Ala
XM_006723733.1:c.3407T>C	XP_006723796.1:p.Val1136Ala
XM_011528647.1:c.4355T>C	XP_011526949.1:p.Val1452Ala
XM_011528648.1:c.4352T>C	XP_011526950.1:p.Val1451Ala
XM_011528649.1:c.4271T>C	XP_011526951.1:p.Val1424Ala
XM_011528650.1:c.4202T>C	XP_011526952.1:p.Val1401Ala
XM_011528651.1:c.4070T>C	XP_011526953.1:p.Val1357Ala
XM_011528652.1:c.4007T>C	XP_011526954.1:p.Val1336Ala
NM_001363734.1:c.3908T>C	NP_001350663.1:p.Val1303Ala
XM_006723727.3:c.4088T>C	XP_006723790.1:p.Val1363Ala
XM_006723728.3:c.4061T>C	XP_006723791.1:p.Val1354Ala
XM_006723730.4:c.4007T>C	XP_006723793.1:p.Val1336Ala
XM_011528648.3:c.4352T>C	XP_011526950.1:p.Val1451Ala
XM_011528652.2:c.4007T>C	XP_011526954.1:p.Val1336Ala
XM_017027704.1:c.4007T>C	XP_016883193.1:p.Val1336Ala
XM_017027705.1:c.4007T>C	XP_016883194.1:p.Val1336Ala
XM_017027706.1:c.3938T>C	XP_016883195.1:p.Val1313Ala
NM_015338.6:c.4091T>C MANE Select	NP_056153.2:p.Val1364Ala