Canonical Allele Identifier: CA381550465
Gene: AIP HGNC NCBI

Linked Data

COSMIC: COSM931101

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490073G>T , CM000673.2:g.67490073G>T GRCh38
NC_000011.9:g.67257544G>T , CM000673.1:g.67257544G>T GRCh37
NC_000011.8:g.67014120G>T NCBI36
NG_008969.1:g.12040G>T , LRG_460:g.12040G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.481G>T
ENST00000528641.7:c.315G>T ENSP00000434982.3:p.Trp105Cys
ENST00000529797.2:n.1016G>T
ENST00000682324.1:c.468+618G>T ENSP00000508017.1:n.468+618G>T
ENST00000682659.1:c.135G>T ENSP00000507351.1:p.Trp45Cys
ENST00000682699.1:c.504G>T ENSP00000507935.1:p.Trp168Cys
ENST00000683237.1:c.504G>T ENSP00000507343.1:p.Trp168Cys
ENST00000683856.1:c.327G>T ENSP00000507979.1:p.Trp109Cys
ENST00000684006.1:c.504G>T ENSP00000507269.1:p.Trp168Cys
ENST00000684657.1:c.324G>T ENSP00000507961.1:p.Trp108Cys
ENST00000279146.8:c.504G>T MANE Select ENSP00000279146.3:p.Trp168Cys
ENST00000279146.7:c.504G>T ENSP00000279146.3:p.Trp168Cys
ENST00000525341.1:c.156G>T ENSP00000476993.1:p.Trp52Cys
ENST00000528641.6:c.315G>T ENSP00000434982.2:p.Trp105Cys
NM_001302959.1:c.327G>T NP_001289888.1:p.Trp109Cys
NM_001302960.1:c.504G>T NP_001289889.1:p.Trp168Cys
NM_003977.3:c.504G>T NP_003968.3:p.Trp168Cys
XM_024448761.1:c.504G>T XP_024304529.1:p.Trp168Cys
NM_003977.4:c.504G>T MANE Select NP_003968.3:p.Trp168Cys
NM_001302960.2:c.504G>T NP_001289889.1:p.Trp168Cys
NM_001302959.2:c.327G>T NP_001289888.1:p.Trp109Cys