Canonical Allele Identifier: CA6140874

Gene: AIP

Linked Data

• ClinVar Variation Id: 825942
• ClinVar RCV Id: RCV001024485 ; RCV001206438
• dbSNP Id: rs575347930
• ExAC: 11:67257614 G / A
• gnomAD v2: 11-67257614-G-A
• gnomAD v3: 11-67490143-G-A
• gnomAD v4: 11-67490143-G-A
• MyVariant Identifiers: chr11:g.67257614G>A (hg19) ; chr11:g.67490143G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490143G>A , CM000673.2:g.67490143G>A	GRCh38
NC_000011.9:g.67257614G>A , CM000673.1:g.67257614G>A	GRCh37
NC_000011.8:g.67014190G>A	NCBI36
NG_008969.1:g.12110G>A , LRG_460:g.12110G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.551G>A
ENST00000528641.7:c.385G>A	ENSP00000434982.3:p.Glu129Lys
ENST00000529797.2:n.1086G>A
ENST00000682324.1:c.468+688G>A	ENSP00000508017.1:n.468+688G>A
ENST00000682659.1:c.205G>A	ENSP00000507351.1:p.Glu69Lys
ENST00000682699.1:c.574G>A	ENSP00000507935.1:p.Glu192Lys
ENST00000683237.1:c.574G>A	ENSP00000507343.1:p.Glu192Lys
ENST00000683856.1:c.397G>A	ENSP00000507979.1:p.Glu133Lys
ENST00000684006.1:c.574G>A	ENSP00000507269.1:p.Glu192Lys
ENST00000684657.1:c.394G>A	ENSP00000507961.1:p.Glu132Lys
ENST00000279146.8:c.574G>A MANE Select	ENSP00000279146.3:p.Glu192Lys
ENST00000279146.7:c.574G>A	ENSP00000279146.3:p.Glu192Lys
ENST00000525341.1:c.226G>A	ENSP00000476993.1:p.Glu76Lys
ENST00000528641.6:c.385G>A	ENSP00000434982.2:p.Glu129Lys
NM_001302959.1:c.397G>A	NP_001289888.1:p.Glu133Lys
NM_001302960.1:c.574G>A	NP_001289889.1:p.Glu192Lys
NM_003977.3:c.574G>A	NP_003968.3:p.Glu192Lys
XM_024448761.1:c.574G>A	XP_024304529.1:p.Glu192Lys
NM_003977.4:c.574G>A MANE Select	NP_003968.3:p.Glu192Lys
NM_001302960.2:c.574G>A	NP_001289889.1:p.Glu192Lys
NM_001302959.2:c.397G>A	NP_001289888.1:p.Glu133Lys