Canonical Allele Identifier: CA344134

Gene: AIP

Linked Data

• ClinVar Variation Id: 41190
• ClinVar RCV Id: RCV000034089 ; RCV001065292 ; RCV000568370
• dbSNP Id: rs202006716
• ExAC: 11:67257631 G / A
• gnomAD v2: 11-67257631-G-A
• gnomAD v3: 11-67490160-G-A
• gnomAD v4: 11-67490160-G-A
• MyVariant Identifiers: chr11:g.67257631G>A (hg19) ; chr11:g.67490160G>A (hg38)
• PubMed: PMID:21753072 ; PMID:22720333 ; PMID:23371967 ; PMID:26792934

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490160G>A , CM000673.2:g.67490160G>A	GRCh38
NC_000011.9:g.67257631G>A , CM000673.1:g.67257631G>A	GRCh37
NC_000011.8:g.67014207G>A	NCBI36
NG_008969.1:g.12127G>A , LRG_460:g.12127G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.568G>A
ENST00000528641.7:c.402G>A	ENSP00000434982.3:p.Glu134=
ENST00000529797.2:n.1103G>A
ENST00000682324.1:c.468+705G>A	ENSP00000508017.1:n.468+705G>A
ENST00000682659.1:c.222G>A	ENSP00000507351.1:p.Glu74=
ENST00000682699.1:c.591G>A	ENSP00000507935.1:p.Glu197=
ENST00000683237.1:c.591G>A	ENSP00000507343.1:p.Glu197=
ENST00000683856.1:c.414G>A	ENSP00000507979.1:p.Glu138=
ENST00000684006.1:c.591G>A	ENSP00000507269.1:p.Glu197=
ENST00000684657.1:c.411G>A	ENSP00000507961.1:p.Glu137=
ENST00000279146.8:c.591G>A MANE Select	ENSP00000279146.3:p.Glu197=
ENST00000279146.7:c.591G>A	ENSP00000279146.3:p.Glu197=
ENST00000525341.1:c.243G>A	ENSP00000476993.1:p.Glu81=
ENST00000528641.6:c.402G>A	ENSP00000434982.2:p.Glu134=
NM_001302959.1:c.414G>A	NP_001289888.1:p.Glu138=
NM_001302960.1:c.591G>A	NP_001289889.1:p.Glu197=
NM_003977.3:c.591G>A	NP_003968.3:p.Glu197=
XM_024448761.1:c.591G>A	XP_024304529.1:p.Glu197=
NM_003977.4:c.591G>A MANE Select	NP_003968.3:p.Glu197=
NM_001302960.2:c.591G>A	NP_001289889.1:p.Glu197=
NM_001302959.2:c.414G>A	NP_001289888.1:p.Glu138=