Canonical Allele Identifier: CA381554448

Gene: AIP

Linked Data

• ClinVar Variation Id: 2849755
• ClinVar RCV Id: RCV003687966
• MyVariant Identifiers: chr11:g.67258278C>A (hg19) ; chr11:g.67490807C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490807C>A , CM000673.2:g.67490807C>A	GRCh38
NC_000011.9:g.67258278C>A , CM000673.1:g.67258278C>A	GRCh37
NC_000011.8:g.67014854C>A	NCBI36
NG_008969.1:g.12774C>A , LRG_460:g.12774C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1114C>A
ENST00000528641.7:c.618C>A	ENSP00000434982.3:p.Phe206Leu
ENST00000529797.2:n.1649C>A
ENST00000682324.1:c.469-190C>A	ENSP00000508017.1:n.469-190C>A
ENST00000682659.1:c.438C>A	ENSP00000507351.1:p.Phe146Leu
ENST00000682699.1:c.807C>A	ENSP00000507935.1:p.Phe269Leu
ENST00000683237.1:c.799C>A	ENSP00000507343.1:p.Gln267Lys
ENST00000683856.1:c.630C>A	ENSP00000507979.1:p.Phe210Leu
ENST00000684006.1:c.796C>A	ENSP00000507269.1:p.Gln266Lys
ENST00000684657.1:c.627C>A	ENSP00000507961.1:p.Phe209Leu
ENST00000279146.8:c.807C>A MANE Select	ENSP00000279146.3:p.Phe269Leu
ENST00000279146.7:c.807C>A	ENSP00000279146.3:p.Phe269Leu
ENST00000528641.6:c.618C>A	ENSP00000434982.2:p.Phe206Leu
NM_001302959.1:c.630C>A	NP_001289888.1:p.Phe210Leu
NM_001302960.1:c.799C>A	NP_001289889.1:p.Gln267Lys
NM_003977.3:c.807C>A	NP_003968.3:p.Phe269Leu
XM_024448761.1:c.807C>A	XP_024304529.1:p.Phe269Leu
NM_003977.4:c.807C>A MANE Select	NP_003968.3:p.Phe269Leu
NM_001302960.2:c.799C>A	NP_001289889.1:p.Gln267Lys
NM_001302959.2:c.630C>A	NP_001289888.1:p.Phe210Leu