Canonical Allele Identifier: CA381555525
Gene: AIP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490983T>G , CM000673.2:g.67490983T>G GRCh38
NC_000011.9:g.67258454T>G , CM000673.1:g.67258454T>G GRCh37
NC_000011.8:g.67015030T>G NCBI36
NG_008969.1:g.12950T>G , LRG_460:g.12950T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.1290T>G
ENST00000528641.7:c.794T>G ENSP00000434982.3:p.Phe265Cys
ENST00000529797.2:n.1825T>G
ENST00000682324.1:c.469-14T>G ENSP00000508017.1:n.469-14T>G
ENST00000682659.1:c.614T>G ENSP00000507351.1:p.Phe205Cys
ENST00000683237.1:c.*123T>G ENSP00000507343.1:n.*123T>G
ENST00000683856.1:c.806T>G ENSP00000507979.1:p.Phe269Cys
ENST00000684006.1:c.*123T>G ENSP00000507269.1:n.*123T>G
ENST00000684657.1:c.803T>G ENSP00000507961.1:p.Phe268Cys
ENST00000279146.8:c.983T>G MANE Select ENSP00000279146.3:p.Phe328Cys
ENST00000279146.7:c.983T>G ENSP00000279146.3:p.Phe328Cys
NM_001302959.1:c.806T>G NP_001289888.1:p.Phe269Cys
NM_001302960.1:c.*123T>G NP_001289889.1:n.*123T>G
NM_003977.3:c.983T>G NP_003968.3:p.Phe328Cys
XM_024448761.1:c.983T>G XP_024304529.1:p.Phe328Cys
NM_003977.4:c.983T>G MANE Select NP_003968.3:p.Phe328Cys
NM_001302960.2:c.*123T>G NP_001289889.1:n.*123T>G
NM_001302959.2:c.806T>G NP_001289888.1:p.Phe269Cys