Canonical Allele Identifier: CA6140686

Gene: AIP

Linked Data

• ClinVar Variation Id: 1379355
• ClinVar RCV Id: RCV001883721
• dbSNP Id: rs755881873
• ExAC: 11:67250728 G / A
• gnomAD v2: 11-67250728-G-A
• gnomAD v4: 11-67483257-G-A
• MyVariant Identifiers: chr11:g.67250728G>A (hg19) ; chr11:g.67483257G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67483257G>A , CM000673.2:g.67483257G>A	GRCh38
NC_000011.9:g.67250728G>A , CM000673.1:g.67250728G>A	GRCh37
NC_000011.8:g.67007304G>A	NCBI36
NG_008969.1:g.5224G>A , LRG_460:g.5224G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.76G>A
ENST00000528641.7:c.99G>A	ENSP00000434982.3:p.Lys33=
ENST00000529797.2:n.29G>A
ENST00000682324.1:c.99G>A	ENSP00000508017.1:p.Lys33=
ENST00000682659.1:c.99G>A	ENSP00000507351.1:p.Lys33=
ENST00000682699.1:c.99G>A	ENSP00000507935.1:p.Lys33=
ENST00000683237.1:c.99G>A	ENSP00000507343.1:p.Lys33=
ENST00000684006.1:c.99G>A	ENSP00000507269.1:p.Lys33=
ENST00000684657.1:c.99G>A	ENSP00000507961.1:p.Lys33=
ENST00000279146.8:c.99G>A MANE Select	ENSP00000279146.3:p.Lys33=
ENST00000279146.7:c.99G>A	ENSP00000279146.3:p.Lys33=
ENST00000528641.6:c.99G>A	ENSP00000434982.2:p.Lys33=
ENST00000529797.1:n.209G>A
NM_001302960.1:c.99G>A	NP_001289889.1:p.Lys33=
NM_003977.3:c.99G>A	NP_003968.3:p.Lys33=
XM_024448761.1:c.99G>A	XP_024304529.1:p.Lys33=
NM_003977.4:c.99G>A MANE Select	NP_003968.3:p.Lys33=
NM_001302960.2:c.99G>A	NP_001289889.1:p.Lys33=