Canonical Allele Identifier: CA344179
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 41204
dbSNP Id: rs267606575

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490439A>G , CM000673.2:g.67490439A>G GRCh38
NC_000011.9:g.67257910A>G , CM000673.1:g.67257910A>G GRCh37
NC_000011.8:g.67014486A>G NCBI36
NG_008969.1:g.12406A>G , LRG_460:g.12406A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.746A>G
ENST00000528641.7:c.580A>G ENSP00000434982.3:p.Ile194Val
ENST00000529797.2:n.1281A>G
ENST00000682324.1:c.469-558A>G ENSP00000508017.1:n.469-558A>G
ENST00000682659.1:c.400A>G ENSP00000507351.1:p.Ile134Val
ENST00000682699.1:c.769A>G ENSP00000507935.1:p.Ile257Val
ENST00000683237.1:c.769A>G ENSP00000507343.1:p.Ile257Val
ENST00000683856.1:c.592A>G ENSP00000507979.1:p.Ile198Val
ENST00000684006.1:c.769A>G ENSP00000507269.1:p.Ile257Val
ENST00000684657.1:c.589A>G ENSP00000507961.1:p.Ile197Val
ENST00000279146.8:c.769A>G MANE Select ENSP00000279146.3:p.Ile257Val
ENST00000279146.7:c.769A>G ENSP00000279146.3:p.Ile257Val
ENST00000525341.1:c.421A>G ENSP00000476993.1:p.Ile141Val
ENST00000528641.6:c.580A>G ENSP00000434982.2:p.Ile194Val
NM_001302959.1:c.592A>G NP_001289888.1:p.Ile198Val
NM_001302960.1:c.769A>G NP_001289889.1:p.Ile257Val
NM_003977.3:c.769A>G NP_003968.3:p.Ile257Val
XM_024448761.1:c.769A>G XP_024304529.1:p.Ile257Val
NM_003977.4:c.769A>G MANE Select NP_003968.3:p.Ile257Val
NM_001302960.2:c.769A>G NP_001289889.1:p.Ile257Val
NM_001302959.2:c.592A>G NP_001289888.1:p.Ile198Val