Canonical Allele Identifier: CA344146

Gene: AIP

Linked Data

• ClinVar Variation Id: 41194
• ClinVar RCV Id: RCV000034093 ; RCV003556105 ; RCV004018728
• dbSNP Id: rs267606566
• MyVariant Identifiers: chr11:g.67257790C>T (hg19) ; chr11:g.67490319C>T (hg38)
• PubMed: PMID:22720333

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.626C>T
ENST00000528641.7:c.460C>T	ENSP00000434982.3:p.Gln154Ter
ENST00000529797.2:n.1161C>T
ENST00000682324.1:c.469-678C>T	ENSP00000508017.1:n.469-678C>T
ENST00000682659.1:c.280C>T	ENSP00000507351.1:p.Gln94Ter
ENST00000682699.1:c.649C>T	ENSP00000507935.1:p.Gln217Ter
ENST00000683237.1:c.649C>T	ENSP00000507343.1:p.Gln217Ter
ENST00000683856.1:c.472C>T	ENSP00000507979.1:p.Gln158Ter
ENST00000684006.1:c.649C>T	ENSP00000507269.1:p.Gln217Ter
ENST00000684657.1:c.469C>T	ENSP00000507961.1:p.Gln157Ter
ENST00000279146.8:c.649C>T MANE Select	ENSP00000279146.3:p.Gln217Ter
ENST00000279146.7:c.649C>T	ENSP00000279146.3:p.Gln217Ter
ENST00000525341.1:c.301C>T	ENSP00000476993.1:p.Gln101Ter
ENST00000528641.6:c.460C>T	ENSP00000434982.2:p.Gln154Ter
NM_001302959.1:c.472C>T	NP_001289888.1:p.Gln158Ter
NM_001302960.1:c.649C>T	NP_001289889.1:p.Gln217Ter
NM_003977.3:c.649C>T	NP_003968.3:p.Gln217Ter
XM_024448761.1:c.649C>T	XP_024304529.1:p.Gln217Ter
NM_003977.4:c.649C>T MANE Select	NP_003968.3:p.Gln217Ter
NM_001302960.2:c.649C>T	NP_001289889.1:p.Gln217Ter
NM_001302959.2:c.472C>T	NP_001289888.1:p.Gln158Ter