Canonical Allele Identifier: CA381551167
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 861318
ClinVar RCV Id: RCV001067823
dbSNP Id: rs1865874602

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490180A>G , CM000673.2:g.67490180A>G GRCh38
NC_000011.9:g.67257651A>G , CM000673.1:g.67257651A>G GRCh37
NC_000011.8:g.67014227A>G NCBI36
NG_008969.1:g.12147A>G , LRG_460:g.12147A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.588A>G
ENST00000528641.7:c.422A>G ENSP00000434982.3:p.Asp141Gly
ENST00000529797.2:n.1123A>G
ENST00000682324.1:c.468+725A>G ENSP00000508017.1:n.468+725A>G
ENST00000682659.1:c.242A>G ENSP00000507351.1:p.Asp81Gly
ENST00000682699.1:c.611A>G ENSP00000507935.1:p.Asp204Gly
ENST00000683237.1:c.611A>G ENSP00000507343.1:p.Asp204Gly
ENST00000683856.1:c.434A>G ENSP00000507979.1:p.Asp145Gly
ENST00000684006.1:c.611A>G ENSP00000507269.1:p.Asp204Gly
ENST00000684657.1:c.431A>G ENSP00000507961.1:p.Asp144Gly
ENST00000279146.8:c.611A>G MANE Select ENSP00000279146.3:p.Asp204Gly
ENST00000279146.7:c.611A>G ENSP00000279146.3:p.Asp204Gly
ENST00000525341.1:c.263A>G ENSP00000476993.1:p.Asp88Gly
ENST00000528641.6:c.422A>G ENSP00000434982.2:p.Asp141Gly
NM_001302959.1:c.434A>G NP_001289888.1:p.Asp145Gly
NM_001302960.1:c.611A>G NP_001289889.1:p.Asp204Gly
NM_003977.3:c.611A>G NP_003968.3:p.Asp204Gly
XM_024448761.1:c.611A>G XP_024304529.1:p.Asp204Gly
NM_003977.4:c.611A>G MANE Select NP_003968.3:p.Asp204Gly
NM_001302960.2:c.611A>G NP_001289889.1:p.Asp204Gly
NM_001302959.2:c.434A>G NP_001289888.1:p.Asp145Gly