Canonical Allele Identifier: CA344063

Gene: AIP

Linked Data

• ClinVar Variation Id: 41164
• ClinVar RCV Id: RCV000034063 ; RCV000563699 ; RCV000897518 ; RCV003894847
• dbSNP Id: rs1063385
• ExAC: 11:67254522 G / A
• gnomAD v2: 11-67254522-G-A
• gnomAD v3: 11-67487051-G-A
• gnomAD v4: 11-67487051-G-A
• MyVariant Identifiers: chr11:g.67254522G>A (hg19) ; chr11:g.67487051G>A (hg38)
• PubMed: PMID:17371465 ; PMID:19188737 ; PMID:20506337 ; PMID:21348957 ; PMID:21454441 ; PMID:22720333 ; PMID:27253664 ; PMID:27267386 ; PMID:28255869

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67487051G>A , CM000673.2:g.67487051G>A	GRCh38
NC_000011.9:g.67254522G>A , CM000673.1:g.67254522G>A	GRCh37
NC_000011.8:g.67011098G>A	NCBI36
NG_008969.1:g.9018G>A , LRG_460:g.9018G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.122G>A
ENST00000528641.7:c.145G>A	ENSP00000434982.3:p.Val49Met
ENST00000529797.2:n.75G>A
ENST00000682324.1:c.145G>A	ENSP00000508017.1:p.Val49Met
ENST00000682659.1:c.100-2987G>A	ENSP00000507351.1:n.100-2987G>A
ENST00000682699.1:c.145G>A	ENSP00000507935.1:p.Val49Met
ENST00000683237.1:c.145G>A	ENSP00000507343.1:p.Val49Met
ENST00000683856.1:c.-33G>A	ENSP00000507979.1:n.-33G>A
ENST00000684006.1:c.145G>A	ENSP00000507269.1:p.Val49Met
ENST00000684657.1:c.100-2216G>A	ENSP00000507961.1:n.100-2216G>A
ENST00000279146.8:c.145G>A MANE Select	ENSP00000279146.3:p.Val49Met
ENST00000279146.7:c.145G>A	ENSP00000279146.3:p.Val49Met
ENST00000528641.6:c.145G>A	ENSP00000434982.2:p.Val49Met
ENST00000529797.1:n.255G>A
NM_001302959.1:c.-33G>A	NP_001289888.1:n.-33G>A
NM_001302960.1:c.145G>A	NP_001289889.1:p.Val49Met
NM_003977.3:c.145G>A	NP_003968.3:p.Val49Met
XM_024448761.1:c.145G>A	XP_024304529.1:p.Val49Met
NM_003977.4:c.145G>A MANE Select	NP_003968.3:p.Val49Met
NM_001302960.2:c.145G>A	NP_001289889.1:p.Val49Met
NM_001302959.2:c.-33G>A	NP_001289888.1:n.-33G>A