Canonical Allele Identifier: CA6140781

Gene: AIP

Linked Data

• ClinVar Variation Id: 305726
• ClinVar RCV Id: RCV000272200 ; RCV000567882 ; RCV001441310 ; RCV003151020 ; RCV003967877
• dbSNP Id: rs147931650
• ExAC: 11:67256759 G / A
• gnomAD v2: 11-67256759-G-A
• gnomAD v3: 11-67489288-G-A
• gnomAD v4: 11-67489288-G-A
• MyVariant Identifiers: chr11:g.67256759G>A (hg19) ; chr11:g.67489288G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67489288G>A , CM000673.2:g.67489288G>A	GRCh38
NC_000011.9:g.67256759G>A , CM000673.1:g.67256759G>A	GRCh37
NC_000011.8:g.67013335G>A	NCBI36
NG_008969.1:g.11255G>A , LRG_460:g.11255G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.278G>A
ENST00000528641.7:c.280-750G>A	ENSP00000434982.3:n.280-750G>A
ENST00000529797.2:n.231G>A
ENST00000682324.1:c.301G>A	ENSP00000508017.1:p.Val101Met
ENST00000682659.1:c.100-750G>A	ENSP00000507351.1:n.100-750G>A
ENST00000682699.1:c.301G>A	ENSP00000507935.1:p.Val101Met
ENST00000683237.1:c.301G>A	ENSP00000507343.1:p.Val101Met
ENST00000683856.1:c.124G>A	ENSP00000507979.1:p.Val42Met
ENST00000684006.1:c.301G>A	ENSP00000507269.1:p.Val101Met
ENST00000684657.1:c.121G>A	ENSP00000507961.1:p.Val41Met
ENST00000279146.8:c.301G>A MANE Select	ENSP00000279146.3:p.Val101Met
ENST00000279146.7:c.301G>A	ENSP00000279146.3:p.Val101Met
ENST00000528641.6:c.280-750G>A	ENSP00000434982.2:n.280-750G>A
ENST00000529797.1:n.411G>A
NM_001302959.1:c.124G>A	NP_001289888.1:p.Val42Met
NM_001302960.1:c.301G>A	NP_001289889.1:p.Val101Met
NM_003977.3:c.301G>A	NP_003968.3:p.Val101Met
XM_024448761.1:c.301G>A	XP_024304529.1:p.Val101Met
NM_003977.4:c.301G>A MANE Select	NP_003968.3:p.Val101Met
NM_001302960.2:c.301G>A	NP_001289889.1:p.Val101Met
NM_001302959.2:c.124G>A	NP_001289888.1:p.Val42Met