Canonical Allele Identifier: CA344155
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 41197
dbSNP Id: rs267606569

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490383G>A , CM000673.2:g.67490383G>A GRCh38
NC_000011.9:g.67257854G>A , CM000673.1:g.67257854G>A GRCh37
NC_000011.8:g.67014430G>A NCBI36
NG_008969.1:g.12350G>A , LRG_460:g.12350G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.690G>A
ENST00000528641.7:c.524G>A ENSP00000434982.3:p.Cys175Tyr
ENST00000529797.2:n.1225G>A
ENST00000682324.1:c.469-614G>A ENSP00000508017.1:n.469-614G>A
ENST00000682659.1:c.344G>A ENSP00000507351.1:p.Cys115Tyr
ENST00000682699.1:c.713G>A ENSP00000507935.1:p.Cys238Tyr
ENST00000683237.1:c.713G>A ENSP00000507343.1:p.Cys238Tyr
ENST00000683856.1:c.536G>A ENSP00000507979.1:p.Cys179Tyr
ENST00000684006.1:c.713G>A ENSP00000507269.1:p.Cys238Tyr
ENST00000684657.1:c.533G>A ENSP00000507961.1:p.Cys178Tyr
ENST00000279146.8:c.713G>A MANE Select ENSP00000279146.3:p.Cys238Tyr
ENST00000279146.7:c.713G>A ENSP00000279146.3:p.Cys238Tyr
ENST00000525341.1:c.365G>A ENSP00000476993.1:p.Cys122Tyr
ENST00000528641.6:c.524G>A ENSP00000434982.2:p.Cys175Tyr
NM_001302959.1:c.536G>A NP_001289888.1:p.Cys179Tyr
NM_001302960.1:c.713G>A NP_001289889.1:p.Cys238Tyr
NM_003977.3:c.713G>A NP_003968.3:p.Cys238Tyr
XM_024448761.1:c.713G>A XP_024304529.1:p.Cys238Tyr
NM_003977.4:c.713G>A MANE Select NP_003968.3:p.Cys238Tyr
NM_001302960.2:c.713G>A NP_001289889.1:p.Cys238Tyr
NM_001302959.2:c.536G>A NP_001289888.1:p.Cys179Tyr