Canonical Allele Identifier: CA117126

Gene: AIP

Linked Data

• ClinVar Variation Id: 4892
• ClinVar RCV Id: RCV000034106 ; RCV000005170 ; RCV003555922
• dbSNP Id: rs121908356
• gnomAD v4: 11-67490804-C-A
• MyVariant Identifiers: chr11:g.67258275C>A (hg19) ; chr11:g.67490804C>A (hg38)
• PubMed: PMID:17341560 ; PMID:22720333

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490804C>A , CM000673.2:g.67490804C>A	GRCh38
NC_000011.9:g.67258275C>A , CM000673.1:g.67258275C>A	GRCh37
NC_000011.8:g.67014851C>A	NCBI36
NG_008969.1:g.12771C>A , LRG_460:g.12771C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1111C>A
ENST00000528641.7:c.615C>A	ENSP00000434982.3:p.Tyr205Ter
ENST00000529797.2:n.1646C>A
ENST00000682324.1:c.469-193C>A	ENSP00000508017.1:n.469-193C>A
ENST00000682659.1:c.435C>A	ENSP00000507351.1:p.Tyr145Ter
ENST00000682699.1:c.804C>A	ENSP00000507935.1:p.Tyr268Ter
ENST00000683237.1:c.796C>A	ENSP00000507343.1:p.Leu266Ile
ENST00000683856.1:c.627C>A	ENSP00000507979.1:p.Tyr209Ter
ENST00000684006.1:c.793C>A	ENSP00000507269.1:p.Leu265Ile
ENST00000684657.1:c.624C>A	ENSP00000507961.1:p.Tyr208Ter
ENST00000279146.8:c.804C>A MANE Select	ENSP00000279146.3:p.Tyr268Ter
ENST00000279146.7:c.804C>A	ENSP00000279146.3:p.Tyr268Ter
ENST00000528641.6:c.615C>A	ENSP00000434982.2:p.Tyr205Ter
NM_001302959.1:c.627C>A	NP_001289888.1:p.Tyr209Ter
NM_001302960.1:c.796C>A	NP_001289889.1:p.Leu266Ile
NM_003977.3:c.804C>A	NP_003968.3:p.Tyr268Ter
XM_024448761.1:c.804C>A	XP_024304529.1:p.Tyr268Ter
NM_003977.4:c.804C>A MANE Select	NP_003968.3:p.Tyr268Ter
NM_001302960.2:c.796C>A	NP_001289889.1:p.Leu266Ile
NM_001302959.2:c.627C>A	NP_001289888.1:p.Tyr209Ter