Canonical Allele Identifier: CA475509521

Gene: AIP

Linked Data

• ClinVar Variation Id: 1632842
• ClinVar RCV Id: RCV002119323
• dbSNP Id: rs2134256534
• MyVariant Identifiers: chr11:g.67258320G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490849G>A , CM000673.2:g.67490849G>A	GRCh38
NC_000011.9:g.67258320G>A , CM000673.1:g.67258320G>A	GRCh37
NC_000011.8:g.67014896G>A	NCBI36
NG_008969.1:g.12816G>A , LRG_460:g.12816G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1156G>A
ENST00000528641.7:c.660G>A	ENSP00000434982.3:p.Glu220=
ENST00000529797.2:n.1691G>A
ENST00000682324.1:c.469-148G>A	ENSP00000508017.1:n.469-148G>A
ENST00000682659.1:c.480G>A	ENSP00000507351.1:p.Glu160=
ENST00000682699.1:c.849G>A	ENSP00000507935.1:p.Glu283=
ENST00000683237.1:c.841G>A	ENSP00000507343.1:p.Gly281Ser
ENST00000683856.1:c.672G>A	ENSP00000507979.1:p.Glu224=
ENST00000684006.1:c.838G>A	ENSP00000507269.1:p.Gly280Ser
ENST00000684657.1:c.669G>A	ENSP00000507961.1:p.Glu223=
ENST00000279146.8:c.849G>A MANE Select	ENSP00000279146.3:p.Glu283=
ENST00000279146.7:c.849G>A	ENSP00000279146.3:p.Glu283=
ENST00000528641.6:c.660G>A	ENSP00000434982.2:p.Glu220=
NM_001302959.1:c.672G>A	NP_001289888.1:p.Glu224=
NM_001302960.1:c.841G>A	NP_001289889.1:p.Gly281Ser
NM_003977.3:c.849G>A	NP_003968.3:p.Glu283=
XM_024448761.1:c.849G>A	XP_024304529.1:p.Glu283=
NM_003977.4:c.849G>A MANE Select	NP_003968.3:p.Glu283=
NM_001302960.2:c.841G>A	NP_001289889.1:p.Gly281Ser
NM_001302959.2:c.672G>A	NP_001289888.1:p.Glu224=