Canonical Allele Identifier: CA381551899
Gene: AIP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490430T>C , CM000673.2:g.67490430T>C GRCh38
NC_000011.9:g.67257901T>C , CM000673.1:g.67257901T>C GRCh37
NC_000011.8:g.67014477T>C NCBI36
NG_008969.1:g.12397T>C , LRG_460:g.12397T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.737T>C
ENST00000528641.7:c.571T>C ENSP00000434982.3:p.Cys191Arg
ENST00000529797.2:n.1272T>C
ENST00000682324.1:c.469-567T>C ENSP00000508017.1:n.469-567T>C
ENST00000682659.1:c.391T>C ENSP00000507351.1:p.Cys131Arg
ENST00000682699.1:c.760T>C ENSP00000507935.1:p.Cys254Arg
ENST00000683237.1:c.760T>C ENSP00000507343.1:p.Cys254Arg
ENST00000683856.1:c.583T>C ENSP00000507979.1:p.Cys195Arg
ENST00000684006.1:c.760T>C ENSP00000507269.1:p.Cys254Arg
ENST00000684657.1:c.580T>C ENSP00000507961.1:p.Cys194Arg
ENST00000279146.8:c.760T>C MANE Select ENSP00000279146.3:p.Cys254Arg
ENST00000279146.7:c.760T>C ENSP00000279146.3:p.Cys254Arg
ENST00000525341.1:c.412T>C ENSP00000476993.1:p.Cys138Arg
ENST00000528641.6:c.571T>C ENSP00000434982.2:p.Cys191Arg
NM_001302959.1:c.583T>C NP_001289888.1:p.Cys195Arg
NM_001302960.1:c.760T>C NP_001289889.1:p.Cys254Arg
NM_003977.3:c.760T>C NP_003968.3:p.Cys254Arg
XM_024448761.1:c.760T>C XP_024304529.1:p.Cys254Arg
NM_003977.4:c.760T>C MANE Select NP_003968.3:p.Cys254Arg
NM_001302960.2:c.760T>C NP_001289889.1:p.Cys254Arg
NM_001302959.2:c.583T>C NP_001289888.1:p.Cys195Arg