Canonical Allele Identifier: CA381551832

Gene: AIP

Linked Data

• ClinVar Variation Id: 1928982
• ClinVar RCV Id: RCV002642266 ; RCV003289564
• gnomAD v4: 11-67490408-G-T
• MyVariant Identifiers: chr11:g.67257879G>T (hg19) ; chr11:g.67490408G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.715G>T
ENST00000528641.7:c.549G>T	ENSP00000434982.3:p.Glu183Asp
ENST00000529797.2:n.1250G>T
ENST00000682324.1:c.469-589G>T	ENSP00000508017.1:n.469-589G>T
ENST00000682659.1:c.369G>T	ENSP00000507351.1:p.Glu123Asp
ENST00000682699.1:c.738G>T	ENSP00000507935.1:p.Glu246Asp
ENST00000683237.1:c.738G>T	ENSP00000507343.1:p.Glu246Asp
ENST00000683856.1:c.561G>T	ENSP00000507979.1:p.Glu187Asp
ENST00000684006.1:c.738G>T	ENSP00000507269.1:p.Glu246Asp
ENST00000684657.1:c.558G>T	ENSP00000507961.1:p.Glu186Asp
ENST00000279146.8:c.738G>T MANE Select	ENSP00000279146.3:p.Glu246Asp
ENST00000279146.7:c.738G>T	ENSP00000279146.3:p.Glu246Asp
ENST00000525341.1:c.390G>T	ENSP00000476993.1:p.Glu130Asp
ENST00000528641.6:c.549G>T	ENSP00000434982.2:p.Glu183Asp
NM_001302959.1:c.561G>T	NP_001289888.1:p.Glu187Asp
NM_001302960.1:c.738G>T	NP_001289889.1:p.Glu246Asp
NM_003977.3:c.738G>T	NP_003968.3:p.Glu246Asp
XM_024448761.1:c.738G>T	XP_024304529.1:p.Glu246Asp
NM_003977.4:c.738G>T MANE Select	NP_003968.3:p.Glu246Asp
NM_001302960.2:c.738G>T	NP_001289889.1:p.Glu246Asp
NM_001302959.2:c.561G>T	NP_001289888.1:p.Glu187Asp