Canonical Allele Identifier: CA2573147633
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 1565130
ClinVar RCV Id: RCV002205155
dbSNP Id: rs267607273

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67489471G>C , CM000673.2:g.67489471G>C GRCh38
NC_000011.9:g.67256942G>C , CM000673.1:g.67256942G>C GRCh37
NC_000011.8:g.67013518G>C NCBI36
NG_008969.1:g.11438G>C , LRG_460:g.11438G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.445+16G>C
ENST00000528641.7:c.280-567G>C ENSP00000434982.3:n.280-567G>C
ENST00000529797.2:n.414G>C
ENST00000682324.1:c.468+16G>C ENSP00000508017.1:n.468+16G>C
ENST00000682659.1:c.100-567G>C ENSP00000507351.1:n.100-567G>C
ENST00000682699.1:c.468+16G>C ENSP00000507935.1:n.468+16G>C
ENST00000683237.1:c.468+16G>C ENSP00000507343.1:n.468+16G>C
ENST00000683856.1:c.291+16G>C ENSP00000507979.1:n.291+16G>C
ENST00000684006.1:c.468+16G>C ENSP00000507269.1:n.468+16G>C
ENST00000684657.1:c.288+16G>C ENSP00000507961.1:n.288+16G>C
ENST00000279146.8:c.468+16G>C MANE Select ENSP00000279146.3:n.468+16G>C
ENST00000279146.7:c.468+16G>C ENSP00000279146.3:n.468+16G>C
ENST00000525341.1:c.120+16G>C ENSP00000476993.1:n.120+16G>C
ENST00000528641.6:c.280-567G>C ENSP00000434982.2:n.280-567G>C
ENST00000529797.1:n.594G>C
NM_001302959.1:c.291+16G>C NP_001289888.1:n.291+16G>C
NM_001302960.1:c.468+16G>C NP_001289889.1:n.468+16G>C
NM_003977.3:c.468+16G>C NP_003968.3:n.468+16G>C
XM_024448761.1:c.468+16G>C XP_024304529.1:n.468+16G>C
NM_003977.4:c.468+16G>C MANE Select NP_003968.3:n.468+16G>C
NM_001302960.2:c.468+16G>C NP_001289889.1:n.468+16G>C
NM_001302959.2:c.291+16G>C NP_001289888.1:n.291+16G>C