Canonical Allele Identifier: CA600236226
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 1617182
ClinVar RCV Id: RCV002071636
dbSNP Id: rs1428256285

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490234G>T , CM000673.2:g.67490234G>T GRCh38
NC_000011.9:g.67257705G>T , CM000673.1:g.67257705G>T GRCh37
NC_000011.8:g.67014281G>T NCBI36
NG_008969.1:g.12201G>T , LRG_460:g.12201G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.622+20G>T
ENST00000528641.7:c.456+20G>T ENSP00000434982.3:n.456+20G>T
ENST00000529797.2:n.1157+20G>T
ENST00000682324.1:c.469-763G>T ENSP00000508017.1:n.469-763G>T
ENST00000682659.1:c.276+20G>T ENSP00000507351.1:n.276+20G>T
ENST00000682699.1:c.645+20G>T ENSP00000507935.1:n.645+20G>T
ENST00000683237.1:c.645+20G>T ENSP00000507343.1:n.645+20G>T
ENST00000683856.1:c.468+20G>T ENSP00000507979.1:n.468+20G>T
ENST00000684006.1:c.645+20G>T ENSP00000507269.1:n.645+20G>T
ENST00000684657.1:c.465+20G>T ENSP00000507961.1:n.465+20G>T
ENST00000279146.8:c.645+20G>T MANE Select ENSP00000279146.3:n.645+20G>T
ENST00000279146.7:c.645+20G>T ENSP00000279146.3:n.645+20G>T
ENST00000525341.1:c.297+20G>T ENSP00000476993.1:n.297+20G>T
ENST00000528641.6:c.456+20G>T ENSP00000434982.2:n.456+20G>T
NM_001302959.1:c.468+20G>T NP_001289888.1:n.468+20G>T
NM_001302960.1:c.645+20G>T NP_001289889.1:n.645+20G>T
NM_003977.3:c.645+20G>T NP_003968.3:n.645+20G>T
XM_024448761.1:c.645+20G>T XP_024304529.1:n.645+20G>T
NM_003977.4:c.645+20G>T MANE Select NP_003968.3:n.645+20G>T
NM_001302960.2:c.645+20G>T NP_001289889.1:n.645+20G>T
NM_001302959.2:c.468+20G>T NP_001289888.1:n.468+20G>T