Canonical Allele Identifier: CA344099
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 41176
dbSNP Id: rs267606550

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67489370G>A , CM000673.2:g.67489370G>A GRCh38
NC_000011.9:g.67256841G>A , CM000673.1:g.67256841G>A GRCh37
NC_000011.8:g.67013417G>A NCBI36
NG_008969.1:g.11337G>A , LRG_460:g.11337G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.360G>A
ENST00000528641.7:c.280-668G>A ENSP00000434982.3:n.280-668G>A
ENST00000529797.2:n.313G>A
ENST00000682324.1:c.383G>A ENSP00000508017.1:p.Arg128His
ENST00000682659.1:c.100-668G>A ENSP00000507351.1:n.100-668G>A
ENST00000682699.1:c.383G>A ENSP00000507935.1:p.Arg128His
ENST00000683237.1:c.383G>A ENSP00000507343.1:p.Arg128His
ENST00000683856.1:c.206G>A ENSP00000507979.1:p.Arg69His
ENST00000684006.1:c.383G>A ENSP00000507269.1:p.Arg128His
ENST00000684657.1:c.203G>A ENSP00000507961.1:p.Arg68His
ENST00000279146.8:c.383G>A MANE Select ENSP00000279146.3:p.Arg128His
ENST00000279146.7:c.383G>A ENSP00000279146.3:p.Arg128His
ENST00000525341.1:c.35G>A ENSP00000476993.1:p.Arg12His
ENST00000528641.6:c.280-668G>A ENSP00000434982.2:n.280-668G>A
ENST00000529797.1:n.493G>A
NM_001302959.1:c.206G>A NP_001289888.1:p.Arg69His
NM_001302960.1:c.383G>A NP_001289889.1:p.Arg128His
NM_003977.3:c.383G>A NP_003968.3:p.Arg128His
XM_024448761.1:c.383G>A XP_024304529.1:p.Arg128His
NM_003977.4:c.383G>A MANE Select NP_003968.3:p.Arg128His
NM_001302960.2:c.383G>A NP_001289889.1:p.Arg128His
NM_001302959.2:c.206G>A NP_001289888.1:p.Arg69His