Canonical Allele Identifier: CA344116

Gene: AIP

Linked Data

• ClinVar Variation Id: 41184
• ClinVar RCV Id: RCV000034083 ; RCV000560928 ; RCV000893230 ; RCV001554284 ; RCV003924890
• dbSNP Id: rs145047094
• ExAC: 11:67250676 G / A
• gnomAD v2: 11-67250676-G-A
• gnomAD v3: 11-67483205-G-A
• gnomAD v4: 11-67483205-G-A
• MyVariant Identifiers: chr11:g.67250676G>A (hg19) ; chr11:g.67483205G>A (hg38)
• PubMed: PMID:16728643 ; PMID:17244780 ; PMID:17609395 ; PMID:18484068 ; PMID:19474519 ; PMID:20506337 ; PMID:21348957 ; PMID:21753072 ; PMID:22319033 ; PMID:22720333 ; PMID:22915287 ; PMID:25184284 ; PMID:25614825

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67483205G>A , CM000673.2:g.67483205G>A	GRCh38
NC_000011.9:g.67250676G>A , CM000673.1:g.67250676G>A	GRCh37
NC_000011.8:g.67007252G>A	NCBI36
NG_008969.1:g.5172G>A , LRG_460:g.5172G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.24G>A
ENST00000528641.7:c.47G>A	ENSP00000434982.3:p.Arg16His
ENST00000682324.1:c.47G>A	ENSP00000508017.1:p.Arg16His
ENST00000682659.1:c.47G>A	ENSP00000507351.1:p.Arg16His
ENST00000682699.1:c.47G>A	ENSP00000507935.1:p.Arg16His
ENST00000683237.1:c.47G>A	ENSP00000507343.1:p.Arg16His
ENST00000684006.1:c.47G>A	ENSP00000507269.1:p.Arg16His
ENST00000684657.1:c.47G>A	ENSP00000507961.1:p.Arg16His
ENST00000279146.8:c.47G>A MANE Select	ENSP00000279146.3:p.Arg16His
ENST00000279146.7:c.47G>A	ENSP00000279146.3:p.Arg16His
ENST00000528641.6:c.47G>A	ENSP00000434982.2:p.Arg16His
ENST00000529797.1:n.157G>A
NM_001302960.1:c.47G>A	NP_001289889.1:p.Arg16His
NM_003977.3:c.47G>A	NP_003968.3:p.Arg16His
XM_024448761.1:c.47G>A	XP_024304529.1:p.Arg16His
NM_003977.4:c.47G>A MANE Select	NP_003968.3:p.Arg16His
NM_001302960.2:c.47G>A	NP_001289889.1:p.Arg16His