Canonical Allele Identifier: CA224163282
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 864210
dbSNP Id: rs942678425

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67487184A>G , CM000673.2:g.67487184A>G GRCh38
NC_000011.9:g.67254655A>G , CM000673.1:g.67254655A>G GRCh37
NC_000011.8:g.67011231A>G NCBI36
NG_008969.1:g.9151A>G , LRG_460:g.9151A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.255A>G
ENST00000528641.7:c.278A>G ENSP00000434982.3:p.Lys93Arg
ENST00000529797.2:n.208A>G
ENST00000682324.1:c.278A>G ENSP00000508017.1:p.Lys93Arg
ENST00000682659.1:c.100-2854A>G ENSP00000507351.1:n.100-2854A>G
ENST00000682699.1:c.278A>G ENSP00000507935.1:p.Lys93Arg
ENST00000683237.1:c.278A>G ENSP00000507343.1:p.Lys93Arg
ENST00000683856.1:c.101A>G ENSP00000507979.1:p.Lys34Arg
ENST00000684006.1:c.278A>G ENSP00000507269.1:p.Lys93Arg
ENST00000684657.1:c.100-2083A>G ENSP00000507961.1:n.100-2083A>G
ENST00000279146.8:c.278A>G MANE Select ENSP00000279146.3:p.Lys93Arg
ENST00000279146.7:c.278A>G ENSP00000279146.3:p.Lys93Arg
ENST00000528641.6:c.278A>G ENSP00000434982.2:p.Lys93Arg
ENST00000529797.1:n.388A>G
NM_001302959.1:c.101A>G NP_001289888.1:p.Lys34Arg
NM_001302960.1:c.278A>G NP_001289889.1:p.Lys93Arg
NM_003977.3:c.278A>G NP_003968.3:p.Lys93Arg
XM_024448761.1:c.278A>G XP_024304529.1:p.Lys93Arg
NM_003977.4:c.278A>G MANE Select NP_003968.3:p.Lys93Arg
NM_001302960.2:c.278A>G NP_001289889.1:p.Lys93Arg
NM_001302959.2:c.101A>G NP_001289888.1:p.Lys34Arg