Canonical Allele Identifier: CA381551473

Gene: AIP

Linked Data

• ClinVar Variation Id: 2675408
• ClinVar RCV Id: RCV003460142
• MyVariant Identifiers: chr11:g.67257790C>G (hg19) ; chr11:g.67490319C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490319C>G , CM000673.2:g.67490319C>G	GRCh38
NC_000011.9:g.67257790C>G , CM000673.1:g.67257790C>G	GRCh37
NC_000011.8:g.67014366C>G	NCBI36
NG_008969.1:g.12286C>G , LRG_460:g.12286C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.626C>G
ENST00000528641.7:c.460C>G	ENSP00000434982.3:p.Gln154Glu
ENST00000529797.2:n.1161C>G
ENST00000682324.1:c.469-678C>G	ENSP00000508017.1:n.469-678C>G
ENST00000682659.1:c.280C>G	ENSP00000507351.1:p.Gln94Glu
ENST00000682699.1:c.649C>G	ENSP00000507935.1:p.Gln217Glu
ENST00000683237.1:c.649C>G	ENSP00000507343.1:p.Gln217Glu
ENST00000683856.1:c.472C>G	ENSP00000507979.1:p.Gln158Glu
ENST00000684006.1:c.649C>G	ENSP00000507269.1:p.Gln217Glu
ENST00000684657.1:c.469C>G	ENSP00000507961.1:p.Gln157Glu
ENST00000279146.8:c.649C>G MANE Select	ENSP00000279146.3:p.Gln217Glu
ENST00000279146.7:c.649C>G	ENSP00000279146.3:p.Gln217Glu
ENST00000525341.1:c.301C>G	ENSP00000476993.1:p.Gln101Glu
ENST00000528641.6:c.460C>G	ENSP00000434982.2:p.Gln154Glu
NM_001302959.1:c.472C>G	NP_001289888.1:p.Gln158Glu
NM_001302960.1:c.649C>G	NP_001289889.1:p.Gln217Glu
NM_003977.3:c.649C>G	NP_003968.3:p.Gln217Glu
XM_024448761.1:c.649C>G	XP_024304529.1:p.Gln217Glu
NM_003977.4:c.649C>G MANE Select	NP_003968.3:p.Gln217Glu
NM_001302960.2:c.649C>G	NP_001289889.1:p.Gln217Glu
NM_001302959.2:c.472C>G	NP_001289888.1:p.Gln158Glu