Canonical Allele Identifier: CA224165946

Gene: AIP

Linked Data

• ClinVar Variation Id: 1521074
• ClinVar RCV Id: RCV002031084
• dbSNP Id: rs1038039525
• MyVariant Identifiers: chr11:g.67258357C>G (hg19) ; chr11:g.67490886C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490886C>G , CM000673.2:g.67490886C>G	GRCh38
NC_000011.9:g.67258357C>G , CM000673.1:g.67258357C>G	GRCh37
NC_000011.8:g.67014933C>G	NCBI36
NG_008969.1:g.12853C>G , LRG_460:g.12853C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1193C>G
ENST00000528641.7:c.697C>G	ENSP00000434982.3:p.Pro233Ala
ENST00000529797.2:n.1728C>G
ENST00000682324.1:c.469-111C>G	ENSP00000508017.1:n.469-111C>G
ENST00000682659.1:c.517C>G	ENSP00000507351.1:p.Pro173Ala
ENST00000682699.1:c.886C>G	ENSP00000507935.1:p.Pro296Ala
ENST00000683237.1:c.*26C>G	ENSP00000507343.1:n.*26C>G
ENST00000683856.1:c.709C>G	ENSP00000507979.1:p.Pro237Ala
ENST00000684006.1:c.*26C>G	ENSP00000507269.1:n.*26C>G
ENST00000684657.1:c.706C>G	ENSP00000507961.1:p.Pro236Ala
ENST00000279146.8:c.886C>G MANE Select	ENSP00000279146.3:p.Pro296Ala
ENST00000279146.7:c.886C>G	ENSP00000279146.3:p.Pro296Ala
ENST00000528641.6:c.697C>G
NM_001302959.1:c.709C>G	NP_001289888.1:p.Pro237Ala
NM_001302960.1:c.*26C>G	NP_001289889.1:n.*26C>G
NM_003977.3:c.886C>G	NP_003968.3:p.Pro296Ala
XM_024448761.1:c.886C>G	XP_024304529.1:p.Pro296Ala
NM_003977.4:c.886C>G MANE Select	NP_003968.3:p.Pro296Ala
NM_001302960.2:c.*26C>G	NP_001289889.1:n.*26C>G
NM_001302959.2:c.709C>G	NP_001289888.1:p.Pro237Ala