Canonical Allele Identifier: CA381555103

Gene: AIP

Linked Data

• ClinVar Variation Id: 1764744
• ClinVar RCV Id: RCV002373726 ; RCV003679105
• MyVariant Identifiers: chr11:g.67258351C>A (hg19) ; chr11:g.67490880C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490880C>A , CM000673.2:g.67490880C>A	GRCh38
NC_000011.9:g.67258351C>A , CM000673.1:g.67258351C>A	GRCh37
NC_000011.8:g.67014927C>A	NCBI36
NG_008969.1:g.12847C>A , LRG_460:g.12847C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1187C>A
ENST00000528641.7:c.691C>A	ENSP00000434982.3:p.Leu231Met
ENST00000529797.2:n.1722C>A
ENST00000682324.1:c.469-117C>A	ENSP00000508017.1:n.469-117C>A
ENST00000682659.1:c.511C>A	ENSP00000507351.1:p.Leu171Met
ENST00000682699.1:c.880C>A	ENSP00000507935.1:p.Leu294Met
ENST00000683237.1:c.*20C>A	ENSP00000507343.1:n.*20C>A
ENST00000683856.1:c.703C>A	ENSP00000507979.1:p.Leu235Met
ENST00000684006.1:c.*20C>A	ENSP00000507269.1:n.*20C>A
ENST00000684657.1:c.700C>A	ENSP00000507961.1:p.Leu234Met
ENST00000279146.8:c.880C>A MANE Select	ENSP00000279146.3:p.Leu294Met
ENST00000279146.7:c.880C>A	ENSP00000279146.3:p.Leu294Met
ENST00000528641.6:c.691C>A	ENSP00000434982.2:p.Leu231Met
NM_001302959.1:c.703C>A	NP_001289888.1:p.Leu235Met
NM_001302960.1:c.*20C>A	NP_001289889.1:n.*20C>A
NM_003977.3:c.880C>A	NP_003968.3:p.Leu294Met
XM_024448761.1:c.880C>A	XP_024304529.1:p.Leu294Met
NM_003977.4:c.880C>A MANE Select	NP_003968.3:p.Leu294Met
NM_001302960.2:c.*20C>A	NP_001289889.1:n.*20C>A
NM_001302959.2:c.703C>A	NP_001289888.1:p.Leu235Met