Canonical Allele Identifier: CA475509571

Gene: AIP

Linked Data

• dbSNP Id: rs1468388461
• gnomAD v2: 11-67258350-G-A
• gnomAD v4: 11-67490879-G-A
• MyVariant Identifiers: chr11:g.67258350G>A (hg19) ; chr11:g.67490879G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490879G>A , CM000673.2:g.67490879G>A	GRCh38
NC_000011.9:g.67258350G>A , CM000673.1:g.67258350G>A	GRCh37
NC_000011.8:g.67014926G>A	NCBI36
NG_008969.1:g.12846G>A , LRG_460:g.12846G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1186G>A
ENST00000528641.7:c.690G>A	ENSP00000434982.3:p.Glu230=
ENST00000529797.2:n.1721G>A
ENST00000682324.1:c.469-118G>A	ENSP00000508017.1:n.469-118G>A
ENST00000682659.1:c.510G>A	ENSP00000507351.1:p.Glu170=
ENST00000682699.1:c.879G>A	ENSP00000507935.1:p.Glu293=
ENST00000683237.1:c.*19G>A	ENSP00000507343.1:n.*19G>A
ENST00000683856.1:c.702G>A	ENSP00000507979.1:p.Glu234=
ENST00000684006.1:c.*19G>A	ENSP00000507269.1:n.*19G>A
ENST00000684657.1:c.699G>A	ENSP00000507961.1:p.Glu233=
ENST00000279146.8:c.879G>A MANE Select	ENSP00000279146.3:p.Glu293=
ENST00000279146.7:c.879G>A	ENSP00000279146.3:p.Glu293=
ENST00000528641.6:c.690G>A	ENSP00000434982.2:p.Glu230=
NM_001302959.1:c.702G>A	NP_001289888.1:p.Glu234=
NM_001302960.1:c.*19G>A	NP_001289889.1:n.*19G>A
NM_003977.3:c.879G>A	NP_003968.3:p.Glu293=
XM_024448761.1:c.879G>A	XP_024304529.1:p.Glu293=
NM_003977.4:c.879G>A MANE Select	NP_003968.3:p.Glu293=
NM_001302960.2:c.*19G>A	NP_001289889.1:n.*19G>A
NM_001302959.2:c.702G>A	NP_001289888.1:p.Glu234=