Canonical Allele Identifier: CA6140925

Gene: AIP

Linked Data

• ClinVar Variation Id: 2624833
• ClinVar RCV Id: RCV003689073 ; RCV003387065
• dbSNP Id: rs149677884
• ExAC: 11:67257879 G / A
• gnomAD v3: 11-67490408-G-A
• gnomAD v4: 11-67490408-G-A
• MyVariant Identifiers: chr11:g.67257879G>A (hg19) ; chr11:g.67490408G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490408G>A , CM000673.2:g.67490408G>A	GRCh38
NC_000011.9:g.67257879G>A , CM000673.1:g.67257879G>A	GRCh37
NC_000011.8:g.67014455G>A	NCBI36
NG_008969.1:g.12375G>A , LRG_460:g.12375G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.715G>A
ENST00000528641.7:c.549G>A	ENSP00000434982.3:p.Glu183=
ENST00000529797.2:n.1250G>A
ENST00000682324.1:c.469-589G>A	ENSP00000508017.1:n.469-589G>A
ENST00000682659.1:c.369G>A	ENSP00000507351.1:p.Glu123=
ENST00000682699.1:c.738G>A	ENSP00000507935.1:p.Glu246=
ENST00000683237.1:c.738G>A	ENSP00000507343.1:p.Glu246=
ENST00000683856.1:c.561G>A	ENSP00000507979.1:p.Glu187=
ENST00000684006.1:c.738G>A	ENSP00000507269.1:p.Glu246=
ENST00000684657.1:c.558G>A	ENSP00000507961.1:p.Glu186=
ENST00000279146.8:c.738G>A MANE Select	ENSP00000279146.3:p.Glu246=
ENST00000279146.7:c.738G>A	ENSP00000279146.3:p.Glu246=
ENST00000525341.1:c.390G>A	ENSP00000476993.1:p.Glu130=
ENST00000528641.6:c.549G>A	ENSP00000434982.2:p.Glu183=
NM_001302959.1:c.561G>A	NP_001289888.1:p.Glu187=
NM_001302960.1:c.738G>A	NP_001289889.1:p.Glu246=
NM_003977.3:c.738G>A	NP_003968.3:p.Glu246=
XM_024448761.1:c.738G>A	XP_024304529.1:p.Glu246=
NM_003977.4:c.738G>A MANE Select	NP_003968.3:p.Glu246=
NM_001302960.2:c.738G>A	NP_001289889.1:p.Glu246=
NM_001302959.2:c.561G>A	NP_001289888.1:p.Glu187=