Canonical Allele Identifier: CA600236221

Gene: AIP

Linked Data

• ClinVar Variation Id: 1635344
• ClinVar RCV Id: RCV002133375
• dbSNP Id: rs1472824786
• gnomAD v2: 11-67258242-A-G
• MyVariant Identifiers: chr11:g.67258242A>G (hg19) ; chr11:g.67490771A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490771A>G , CM000673.2:g.67490771A>G	GRCh38
NC_000011.9:g.67258242A>G , CM000673.1:g.67258242A>G	GRCh37
NC_000011.8:g.67014818A>G	NCBI36
NG_008969.1:g.12738A>G , LRG_460:g.12738A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.1078A>G
ENST00000528641.7:c.599-17A>G	ENSP00000434982.3:n.599-17A>G
ENST00000529797.2:n.1613A>G
ENST00000682324.1:c.469-226A>G	ENSP00000508017.1:n.469-226A>G
ENST00000682659.1:c.419-17A>G	ENSP00000507351.1:n.419-17A>G
ENST00000682699.1:c.788-17A>G	ENSP00000507935.1:n.788-17A>G
ENST00000683237.1:c.780-17A>G	ENSP00000507343.1:n.780-17A>G
ENST00000683856.1:c.611-17A>G	ENSP00000507979.1:n.611-17A>G
ENST00000684006.1:c.788-28A>G	ENSP00000507269.1:n.788-28A>G
ENST00000684657.1:c.608-17A>G	ENSP00000507961.1:n.608-17A>G
ENST00000279146.8:c.788-17A>G MANE Select	ENSP00000279146.3:n.788-17A>G
ENST00000279146.7:c.788-17A>G	ENSP00000279146.3:n.788-17A>G
ENST00000528641.6:c.599-17A>G	ENSP00000434982.2:n.599-17A>G
NM_001302959.1:c.611-17A>G	NP_001289888.1:n.611-17A>G
NM_001302960.1:c.780-17A>G	NP_001289889.1:n.780-17A>G
NM_003977.3:c.788-17A>G	NP_003968.3:n.788-17A>G
XM_024448761.1:c.788-17A>G	XP_024304529.1:n.788-17A>G
NM_003977.4:c.788-17A>G MANE Select	NP_003968.3:n.788-17A>G
NM_001302960.2:c.780-17A>G	NP_001289889.1:n.780-17A>G
NM_001302959.2:c.611-17A>G	NP_001289888.1:n.611-17A>G