Canonical Allele Identifier: CA344094
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 41174
dbSNP Id: rs267606548

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67489295A>G , CM000673.2:g.67489295A>G GRCh38
NC_000011.9:g.67256766A>G , CM000673.1:g.67256766A>G GRCh37
NC_000011.8:g.67013342A>G NCBI36
NG_008969.1:g.11262A>G , LRG_460:g.11262A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.285A>G
ENST00000528641.7:c.280-743A>G ENSP00000434982.3:n.280-743A>G
ENST00000529797.2:n.238A>G
ENST00000682324.1:c.308A>G ENSP00000508017.1:p.Lys103Arg
ENST00000682659.1:c.100-743A>G ENSP00000507351.1:n.100-743A>G
ENST00000682699.1:c.308A>G ENSP00000507935.1:p.Lys103Arg
ENST00000683237.1:c.308A>G ENSP00000507343.1:p.Lys103Arg
ENST00000683856.1:c.131A>G ENSP00000507979.1:p.Lys44Arg
ENST00000684006.1:c.308A>G ENSP00000507269.1:p.Lys103Arg
ENST00000684657.1:c.128A>G ENSP00000507961.1:p.Lys43Arg
ENST00000279146.8:c.308A>G MANE Select ENSP00000279146.3:p.Lys103Arg
ENST00000279146.7:c.308A>G ENSP00000279146.3:p.Lys103Arg
ENST00000528641.6:c.280-743A>G ENSP00000434982.2:n.280-743A>G
ENST00000529797.1:n.418A>G
NM_001302959.1:c.131A>G NP_001289888.1:p.Lys44Arg
NM_001302960.1:c.308A>G NP_001289889.1:p.Lys103Arg
NM_003977.3:c.308A>G NP_003968.3:p.Lys103Arg
XM_024448761.1:c.308A>G XP_024304529.1:p.Lys103Arg
NM_003977.4:c.308A>G MANE Select NP_003968.3:p.Lys103Arg
NM_001302960.2:c.308A>G NP_001289889.1:p.Lys103Arg
NM_001302959.2:c.131A>G NP_001289888.1:p.Lys44Arg