Canonical Allele Identifier: CA6140883
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 1559152
ClinVar RCV Id: RCV002202625
dbSNP Id: rs373778965

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490226A>G , CM000673.2:g.67490226A>G GRCh38
NC_000011.9:g.67257697A>G , CM000673.1:g.67257697A>G GRCh37
NC_000011.8:g.67014273A>G NCBI36
NG_008969.1:g.12193A>G , LRG_460:g.12193A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.622+12A>G
ENST00000528641.7:c.456+12A>G ENSP00000434982.3:n.456+12A>G
ENST00000529797.2:n.1157+12A>G
ENST00000682324.1:c.469-771A>G ENSP00000508017.1:n.469-771A>G
ENST00000682659.1:c.276+12A>G ENSP00000507351.1:n.276+12A>G
ENST00000682699.1:c.645+12A>G ENSP00000507935.1:n.645+12A>G
ENST00000683237.1:c.645+12A>G ENSP00000507343.1:n.645+12A>G
ENST00000683856.1:c.468+12A>G ENSP00000507979.1:n.468+12A>G
ENST00000684006.1:c.645+12A>G ENSP00000507269.1:n.645+12A>G
ENST00000684657.1:c.465+12A>G ENSP00000507961.1:n.465+12A>G
ENST00000279146.8:c.645+12A>G MANE Select ENSP00000279146.3:n.645+12A>G
ENST00000279146.7:c.645+12A>G ENSP00000279146.3:n.645+12A>G
ENST00000525341.1:c.297+12A>G ENSP00000476993.1:n.297+12A>G
ENST00000528641.6:c.456+12A>G ENSP00000434982.2:n.456+12A>G
NM_001302959.1:c.468+12A>G NP_001289888.1:n.468+12A>G
NM_001302960.1:c.645+12A>G NP_001289889.1:n.645+12A>G
NM_003977.3:c.645+12A>G NP_003968.3:n.645+12A>G
XM_024448761.1:c.645+12A>G XP_024304529.1:n.645+12A>G
NM_003977.4:c.645+12A>G MANE Select NP_003968.3:n.645+12A>G
NM_001302960.2:c.645+12A>G NP_001289889.1:n.645+12A>G
NM_001302959.2:c.468+12A>G NP_001289888.1:n.468+12A>G