Canonical Allele Identifier: CA381551725
Gene: AIP HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_003977.4:c.713G>T MANE Select NP_003968.3:p.Cys238Phe
ENST00000279146.8:c.713G>T MANE Select ENSP00000279146.3:p.Cys238Phe
NM_001302959.1:c.536G>T NP_001289888.1:p.Cys179Phe
NM_001302959.2:c.536G>T NP_001289888.1:p.Cys179Phe
NM_001302960.1:c.713G>T NP_001289889.1:p.Cys238Phe
NM_001302960.2:c.713G>T NP_001289889.1:p.Cys238Phe
NM_003977.3:c.713G>T NP_003968.3:p.Cys238Phe
ENST00000279146.7:c.713G>T ENSP00000279146.3:p.Cys238Phe
ENST00000525341.1:c.365G>T ENSP00000476993.1:p.Cys122Phe
ENST00000525341.2:c.690G>T
ENST00000528641.6:c.524G>T ENSP00000434982.2:p.Cys175Phe
ENST00000528641.7:c.524G>T ENSP00000434982.3:p.Cys175Phe
ENST00000529797.2:n.1225G>T
ENST00000682324.1:c.469-614G>T ENSP00000508017.1:n.469-614G>T
ENST00000682659.1:c.344G>T ENSP00000507351.1:p.Cys115Phe
ENST00000682699.1:c.713G>T ENSP00000507935.1:p.Cys238Phe
ENST00000683237.1:c.713G>T ENSP00000507343.1:p.Cys238Phe
ENST00000683856.1:c.536G>T ENSP00000507979.1:p.Cys179Phe
ENST00000684006.1:c.713G>T ENSP00000507269.1:p.Cys238Phe
ENST00000684657.1:c.533G>T ENSP00000507961.1:p.Cys178Phe
XM_024448761.1:c.713G>T XP_024304529.1:p.Cys238Phe