Canonical Allele Identifier: CA381551335
Gene: AIP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490204T>G , CM000673.2:g.67490204T>G GRCh38
NC_000011.9:g.67257675T>G , CM000673.1:g.67257675T>G GRCh37
NC_000011.8:g.67014251T>G NCBI36
NG_008969.1:g.12171T>G , LRG_460:g.12171T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.612T>G
ENST00000528641.7:c.446T>G ENSP00000434982.3:p.Leu149Arg
ENST00000529797.2:n.1147T>G
ENST00000682324.1:c.468+749T>G ENSP00000508017.1:n.468+749T>G
ENST00000682659.1:c.266T>G ENSP00000507351.1:p.Leu89Arg
ENST00000682699.1:c.635T>G ENSP00000507935.1:p.Leu212Arg
ENST00000683237.1:c.635T>G ENSP00000507343.1:p.Leu212Arg
ENST00000683856.1:c.458T>G ENSP00000507979.1:p.Leu153Arg
ENST00000684006.1:c.635T>G ENSP00000507269.1:p.Leu212Arg
ENST00000684657.1:c.455T>G ENSP00000507961.1:p.Leu152Arg
ENST00000279146.8:c.635T>G MANE Select ENSP00000279146.3:p.Leu212Arg
ENST00000279146.7:c.635T>G ENSP00000279146.3:p.Leu212Arg
ENST00000525341.1:c.287T>G ENSP00000476993.1:p.Leu96Arg
ENST00000528641.6:c.446T>G ENSP00000434982.2:p.Leu149Arg
NM_001302959.1:c.458T>G NP_001289888.1:p.Leu153Arg
NM_001302960.1:c.635T>G NP_001289889.1:p.Leu212Arg
NM_003977.3:c.635T>G NP_003968.3:p.Leu212Arg
XM_024448761.1:c.635T>G XP_024304529.1:p.Leu212Arg
NM_003977.4:c.635T>G MANE Select NP_003968.3:p.Leu212Arg
NM_001302960.2:c.635T>G NP_001289889.1:p.Leu212Arg
NM_001302959.2:c.458T>G NP_001289888.1:p.Leu153Arg