Canonical Allele Identifier: CA408562498
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32435881G>A , CM000682.2:g.32435881G>A GRCh38
NC_000020.10:g.31023684G>A , CM000682.1:g.31023684G>A GRCh37
NC_000020.9:g.30487345G>A NCBI36
NG_027868.1:g.82538G>A , LRG_630:g.82538G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3169G>A MANE Select ENSP00000364839.4:p.Asp1057Asn
ENST00000646985.1:c.2986G>A ENSP00000495053.1:p.Asp996Asn
ENST00000647223.1:n.5522G>A
ENST00000651418.1:c.1869+1300G>A ENSP00000499150.1:n.1869+1300G>A
ENST00000306058.9:c.3154G>A ENSP00000305119.5:p.Asp1052Asn
ENST00000375687.8:c.3169G>A ENSP00000364839.4:p.Asp1057Asn
ENST00000613218.4:c.3169G>A ENSP00000480487.1:p.Asp1057Asn
ENST00000620121.4:c.3169G>A ENSP00000481978.1:p.Asp1057Asn
NM_015338.5:c.3169G>A , LRG_630t1:c.3169G>A NP_056153.2:p.Asp1057Asn
XM_006723727.2:c.3166G>A XP_006723790.1:p.Asp1056Asn
XM_006723728.2:c.3139G>A XP_006723791.1:p.Asp1047Asn
XM_006723730.2:c.3085G>A XP_006723793.1:p.Asp1029Asn
XM_006723732.2:c.2986G>A XP_006723795.1:p.Asp996Asn
XM_006723733.1:c.2485G>A XP_006723796.1:p.Asp829Asn
XM_011528647.1:c.3433G>A XP_011526949.1:p.Asp1145Asn
XM_011528648.1:c.3430G>A XP_011526950.1:p.Asp1144Asn
XM_011528649.1:c.3349G>A XP_011526951.1:p.Asp1117Asn
XM_011528650.1:c.3280G>A XP_011526952.1:p.Asp1094Asn
XM_011528651.1:c.3148G>A XP_011526953.1:p.Asp1050Asn
XM_011528652.1:c.3085G>A XP_011526954.1:p.Asp1029Asn
NM_001363734.1:c.2986G>A NP_001350663.1:p.Asp996Asn
XM_006723727.3:c.3166G>A XP_006723790.1:p.Asp1056Asn
XM_006723728.3:c.3139G>A XP_006723791.1:p.Asp1047Asn
XM_006723730.4:c.3085G>A XP_006723793.1:p.Asp1029Asn
XM_011528648.3:c.3430G>A XP_011526950.1:p.Asp1144Asn
XM_011528652.2:c.3085G>A XP_011526954.1:p.Asp1029Asn
XM_017027704.1:c.3085G>A XP_016883193.1:p.Asp1029Asn
XM_017027705.1:c.3085G>A XP_016883194.1:p.Asp1029Asn
XM_017027706.1:c.3016G>A XP_016883195.1:p.Asp1006Asn
NM_015338.6:c.3169G>A MANE Select NP_056153.2:p.Asp1057Asn