Canonical Allele Identifier: CA381550580

Gene: AIP

Linked Data

• ClinVar Variation Id: 2675313
• ClinVar RCV Id: RCV003468058 ; RCV003553954
• gnomAD v4: 11-67490092-A-C
• MyVariant Identifiers: chr11:g.67257563A>C (hg19) ; chr11:g.67490092A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490092A>C , CM000673.2:g.67490092A>C	GRCh38
NC_000011.9:g.67257563A>C , CM000673.1:g.67257563A>C	GRCh37
NC_000011.8:g.67014139A>C	NCBI36
NG_008969.1:g.12059A>C , LRG_460:g.12059A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.500A>C
ENST00000528641.7:c.334A>C	ENSP00000434982.3:p.Lys112Gln
ENST00000529797.2:n.1035A>C
ENST00000682324.1:c.468+637A>C	ENSP00000508017.1:n.468+637A>C
ENST00000682659.1:c.154A>C	ENSP00000507351.1:p.Lys52Gln
ENST00000682699.1:c.523A>C	ENSP00000507935.1:p.Lys175Gln
ENST00000683237.1:c.523A>C	ENSP00000507343.1:p.Lys175Gln
ENST00000683856.1:c.346A>C	ENSP00000507979.1:p.Lys116Gln
ENST00000684006.1:c.523A>C	ENSP00000507269.1:p.Lys175Gln
ENST00000684657.1:c.343A>C	ENSP00000507961.1:p.Lys115Gln
ENST00000279146.8:c.523A>C MANE Select	ENSP00000279146.3:p.Lys175Gln
ENST00000279146.7:c.523A>C	ENSP00000279146.3:p.Lys175Gln
ENST00000525341.1:c.175A>C	ENSP00000476993.1:p.Lys59Gln
ENST00000528641.6:c.334A>C	ENSP00000434982.2:p.Lys112Gln
NM_001302959.1:c.346A>C	NP_001289888.1:p.Lys116Gln
NM_001302960.1:c.523A>C	NP_001289889.1:p.Lys175Gln
NM_003977.3:c.523A>C	NP_003968.3:p.Lys175Gln
XM_024448761.1:c.523A>C	XP_024304529.1:p.Lys175Gln
NM_003977.4:c.523A>C MANE Select	NP_003968.3:p.Lys175Gln
NM_001302960.2:c.523A>C	NP_001289889.1:p.Lys175Gln
NM_001302959.2:c.346A>C	NP_001289888.1:p.Lys116Gln