Canonical Allele Identifier: CA6140668

Gene: AIP

Linked Data

• ClinVar Variation Id: 485052
• ClinVar RCV Id: RCV000561910 ; RCV001054806 ; RCV000765005 ; RCV001764674
• dbSNP Id: rs139459091
• ExAC: 11:67250655 G / A
• gnomAD v2: 11-67250655-G-A
• gnomAD v3: 11-67483184-G-A
• gnomAD v4: 11-67483184-G-A
• MyVariant Identifiers: chr11:g.67250655G>A (hg19) ; chr11:g.67483184G>A (hg38)
• PubMed: PMID:19474519 ; PMID:20833337 ; PMID:22319033 ; PMID:23038625

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67483184G>A , CM000673.2:g.67483184G>A	GRCh38
NC_000011.9:g.67250655G>A , CM000673.1:g.67250655G>A	GRCh37
NC_000011.8:g.67007231G>A	NCBI36
NG_008969.1:g.5151G>A , LRG_460:g.5151G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.3G>A
ENST00000528641.7:c.26G>A	ENSP00000434982.3:p.Arg9Gln
ENST00000682324.1:c.26G>A	ENSP00000508017.1:p.Arg9Gln
ENST00000682659.1:c.26G>A	ENSP00000507351.1:p.Arg9Gln
ENST00000682699.1:c.26G>A	ENSP00000507935.1:p.Arg9Gln
ENST00000683237.1:c.26G>A	ENSP00000507343.1:p.Arg9Gln
ENST00000684006.1:c.26G>A	ENSP00000507269.1:p.Arg9Gln
ENST00000684657.1:c.26G>A	ENSP00000507961.1:p.Arg9Gln
ENST00000279146.8:c.26G>A MANE Select	ENSP00000279146.3:p.Arg9Gln
ENST00000279146.7:c.26G>A	ENSP00000279146.3:p.Arg9Gln
ENST00000528641.6:c.26G>A	ENSP00000434982.2:p.Arg9Gln
ENST00000529797.1:n.136G>A
NM_001302960.1:c.26G>A	NP_001289889.1:p.Arg9Gln
NM_003977.3:c.26G>A	NP_003968.3:p.Arg9Gln
XM_024448761.1:c.26G>A	XP_024304529.1:p.Arg9Gln
NM_003977.4:c.26G>A MANE Select	NP_003968.3:p.Arg9Gln
NM_001302960.2:c.26G>A	NP_001289889.1:p.Arg9Gln