Canonical Allele Identifier: CA344116
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 41184
dbSNP Id: rs145047094

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67483205G>A , CM000673.2:g.67483205G>A GRCh38
NC_000011.9:g.67250676G>A , CM000673.1:g.67250676G>A GRCh37
NC_000011.8:g.67007252G>A NCBI36
NG_008969.1:g.5172G>A , LRG_460:g.5172G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.24G>A
ENST00000528641.7:c.47G>A ENSP00000434982.3:p.Arg16His
ENST00000682324.1:c.47G>A ENSP00000508017.1:p.Arg16His
ENST00000682659.1:c.47G>A ENSP00000507351.1:p.Arg16His
ENST00000682699.1:c.47G>A ENSP00000507935.1:p.Arg16His
ENST00000683237.1:c.47G>A ENSP00000507343.1:p.Arg16His
ENST00000684006.1:c.47G>A ENSP00000507269.1:p.Arg16His
ENST00000684657.1:c.47G>A ENSP00000507961.1:p.Arg16His
ENST00000279146.8:c.47G>A MANE Select ENSP00000279146.3:p.Arg16His
ENST00000279146.7:c.47G>A ENSP00000279146.3:p.Arg16His
ENST00000528641.6:c.47G>A ENSP00000434982.2:p.Arg16His
ENST00000529797.1:n.157G>A
NM_001302960.1:c.47G>A NP_001289889.1:p.Arg16His
NM_003977.3:c.47G>A NP_003968.3:p.Arg16His
XM_024448761.1:c.47G>A XP_024304529.1:p.Arg16His
NM_003977.4:c.47G>A MANE Select NP_003968.3:p.Arg16His
NM_001302960.2:c.47G>A NP_001289889.1:p.Arg16His