Canonical Allele Identifier: CA510467334
Gene: ASXL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.31024052A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436249A>C , CM000682.2:g.32436249A>C GRCh38
NC_000020.10:g.31024052A>C , CM000682.1:g.31024052A>C GRCh37
NC_000020.9:g.30487713A>C NCBI36
NG_027868.1:g.82906A>C , LRG_630:g.82906A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375687.10:c.3537A>C MANE Select ENSP00000364839.4:p.Pro1179=
ENST00000646985.1:c.3354A>C ENSP00000495053.1:p.Pro1118=
ENST00000647223.1:n.5890A>C
ENST00000651418.1:c.1869+1668A>C ENSP00000499150.1:n.1869+1668A>C
ENST00000306058.9:c.3522A>C ENSP00000305119.5:p.Pro1174=
ENST00000375687.8:c.3537A>C ENSP00000364839.4:p.Pro1179=
ENST00000613218.4:c.3537A>C ENSP00000480487.1:p.Pro1179=
ENST00000620121.4:c.3537A>C ENSP00000481978.1:p.Pro1179=
NM_015338.5:c.3537A>C , LRG_630t1:c.3537A>C NP_056153.2:p.Pro1179=
XM_006723727.2:c.3534A>C XP_006723790.1:p.Pro1178=
XM_006723728.2:c.3507A>C XP_006723791.1:p.Pro1169=
XM_006723730.2:c.3453A>C XP_006723793.1:p.Pro1151=
XM_006723732.2:c.3354A>C XP_006723795.1:p.Pro1118=
XM_006723733.1:c.2853A>C XP_006723796.1:p.Pro951=
XM_011528647.1:c.3801A>C XP_011526949.1:p.Pro1267=
XM_011528648.1:c.3798A>C XP_011526950.1:p.Pro1266=
XM_011528649.1:c.3717A>C XP_011526951.1:p.Pro1239=
XM_011528650.1:c.3648A>C XP_011526952.1:p.Pro1216=
XM_011528651.1:c.3516A>C XP_011526953.1:p.Pro1172=
XM_011528652.1:c.3453A>C XP_011526954.1:p.Pro1151=
NM_001363734.1:c.3354A>C NP_001350663.1:p.Pro1118=
XM_006723727.3:c.3534A>C XP_006723790.1:p.Pro1178=
XM_006723728.3:c.3507A>C XP_006723791.1:p.Pro1169=
XM_006723730.4:c.3453A>C XP_006723793.1:p.Pro1151=
XM_011528648.3:c.3798A>C XP_011526950.1:p.Pro1266=
XM_011528652.2:c.3453A>C XP_011526954.1:p.Pro1151=
XM_017027704.1:c.3453A>C XP_016883193.1:p.Pro1151=
XM_017027705.1:c.3453A>C XP_016883194.1:p.Pro1151=
XM_017027706.1:c.3384A>C XP_016883195.1:p.Pro1128=
NM_015338.6:c.3537A>C MANE Select NP_056153.2:p.Pro1179=