Canonical Allele Identifier: CA381551522
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 1755030

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490340A>G , CM000673.2:g.67490340A>G GRCh38
NC_000011.9:g.67257811A>G , CM000673.1:g.67257811A>G GRCh37
NC_000011.8:g.67014387A>G NCBI36
NG_008969.1:g.12307A>G , LRG_460:g.12307A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.647A>G
ENST00000528641.7:c.481A>G ENSP00000434982.3:p.Ile161Val
ENST00000529797.2:n.1182A>G
ENST00000682324.1:c.469-657A>G ENSP00000508017.1:n.469-657A>G
ENST00000682659.1:c.301A>G ENSP00000507351.1:p.Ile101Val
ENST00000682699.1:c.670A>G ENSP00000507935.1:p.Ile224Val
ENST00000683237.1:c.670A>G ENSP00000507343.1:p.Ile224Val
ENST00000683856.1:c.493A>G ENSP00000507979.1:p.Ile165Val
ENST00000684006.1:c.670A>G ENSP00000507269.1:p.Ile224Val
ENST00000684657.1:c.490A>G ENSP00000507961.1:p.Ile164Val
ENST00000279146.8:c.670A>G MANE Select ENSP00000279146.3:p.Ile224Val
ENST00000279146.7:c.670A>G ENSP00000279146.3:p.Ile224Val
ENST00000525341.1:c.322A>G ENSP00000476993.1:p.Ile108Val
ENST00000528641.6:c.481A>G ENSP00000434982.2:p.Ile161Val
NM_001302959.1:c.493A>G NP_001289888.1:p.Ile165Val
NM_001302960.1:c.670A>G NP_001289889.1:p.Ile224Val
NM_003977.3:c.670A>G NP_003968.3:p.Ile224Val
XM_024448761.1:c.670A>G XP_024304529.1:p.Ile224Val
NM_003977.4:c.670A>G MANE Select NP_003968.3:p.Ile224Val
NM_001302960.2:c.670A>G NP_001289889.1:p.Ile224Val
NM_001302959.2:c.493A>G NP_001289888.1:p.Ile165Val