Canonical Allele Identifier: CA510467057

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31023701T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435898T>C , CM000682.2:g.32435898T>C	GRCh38
NC_000020.10:g.31023701T>C , CM000682.1:g.31023701T>C	GRCh37
NC_000020.9:g.30487362T>C	NCBI36
NG_027868.1:g.82555T>C , LRG_630:g.82555T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3186T>C MANE Select	ENSP00000364839.4:p.Pro1062=
ENST00000646985.1:c.3003T>C	ENSP00000495053.1:p.Pro1001=
ENST00000647223.1:n.5539T>C
ENST00000651418.1:c.1869+1317T>C	ENSP00000499150.1:n.1869+1317T>C
ENST00000306058.9:c.3171T>C	ENSP00000305119.5:p.Pro1057=
ENST00000375687.8:c.3186T>C	ENSP00000364839.4:p.Pro1062=
ENST00000613218.4:c.3186T>C	ENSP00000480487.1:p.Pro1062=
ENST00000620121.4:c.3186T>C	ENSP00000481978.1:p.Pro1062=
NM_015338.5:c.3186T>C , LRG_630t1:c.3186T>C	NP_056153.2:p.Pro1062=
XM_006723727.2:c.3183T>C	XP_006723790.1:p.Pro1061=
XM_006723728.2:c.3156T>C	XP_006723791.1:p.Pro1052=
XM_006723730.2:c.3102T>C	XP_006723793.1:p.Pro1034=
XM_006723732.2:c.3003T>C	XP_006723795.1:p.Pro1001=
XM_006723733.1:c.2502T>C	XP_006723796.1:p.Pro834=
XM_011528647.1:c.3450T>C	XP_011526949.1:p.Pro1150=
XM_011528648.1:c.3447T>C	XP_011526950.1:p.Pro1149=
XM_011528649.1:c.3366T>C	XP_011526951.1:p.Pro1122=
XM_011528650.1:c.3297T>C	XP_011526952.1:p.Pro1099=
XM_011528651.1:c.3165T>C	XP_011526953.1:p.Pro1055=
XM_011528652.1:c.3102T>C	XP_011526954.1:p.Pro1034=
NM_001363734.1:c.3003T>C	NP_001350663.1:p.Pro1001=
XM_006723727.3:c.3183T>C	XP_006723790.1:p.Pro1061=
XM_006723728.3:c.3156T>C	XP_006723791.1:p.Pro1052=
XM_006723730.4:c.3102T>C	XP_006723793.1:p.Pro1034=
XM_011528648.3:c.3447T>C	XP_011526950.1:p.Pro1149=
XM_011528652.2:c.3102T>C	XP_011526954.1:p.Pro1034=
XM_017027704.1:c.3102T>C	XP_016883193.1:p.Pro1034=
XM_017027705.1:c.3102T>C	XP_016883194.1:p.Pro1034=
XM_017027706.1:c.3033T>C	XP_016883195.1:p.Pro1011=
NM_015338.6:c.3186T>C MANE Select	NP_056153.2:p.Pro1062=