Canonical Allele Identifier: CA6140875

Gene: AIP

Linked Data

• ClinVar Variation Id: 1449487
• ClinVar RCV Id: RCV002014527
• dbSNP Id: rs542237608
• ExAC: 11:67257615 A / G
• gnomAD v2: 11-67257615-A-G
• gnomAD v3: 11-67490144-A-G
• gnomAD v4: 11-67490144-A-G
• MyVariant Identifiers: chr11:g.67257615A>G (hg19) ; chr11:g.67490144A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490144A>G , CM000673.2:g.67490144A>G	GRCh38
NC_000011.9:g.67257615A>G , CM000673.1:g.67257615A>G	GRCh37
NC_000011.8:g.67014191A>G	NCBI36
NG_008969.1:g.12111A>G , LRG_460:g.12111A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.552A>G
ENST00000528641.7:c.386A>G	ENSP00000434982.3:p.Glu129Gly
ENST00000529797.2:n.1087A>G
ENST00000682324.1:c.468+689A>G	ENSP00000508017.1:n.468+689A>G
ENST00000682659.1:c.206A>G	ENSP00000507351.1:p.Glu69Gly
ENST00000682699.1:c.575A>G	ENSP00000507935.1:p.Glu192Gly
ENST00000683237.1:c.575A>G	ENSP00000507343.1:p.Glu192Gly
ENST00000683856.1:c.398A>G	ENSP00000507979.1:p.Glu133Gly
ENST00000684006.1:c.575A>G	ENSP00000507269.1:p.Glu192Gly
ENST00000684657.1:c.395A>G	ENSP00000507961.1:p.Glu132Gly
ENST00000279146.8:c.575A>G MANE Select	ENSP00000279146.3:p.Glu192Gly
ENST00000279146.7:c.575A>G	ENSP00000279146.3:p.Glu192Gly
ENST00000525341.1:c.227A>G	ENSP00000476993.1:p.Glu76Gly
ENST00000528641.6:c.386A>G	ENSP00000434982.2:p.Glu129Gly
NM_001302959.1:c.398A>G	NP_001289888.1:p.Glu133Gly
NM_001302960.1:c.575A>G	NP_001289889.1:p.Glu192Gly
NM_003977.3:c.575A>G	NP_003968.3:p.Glu192Gly
XM_024448761.1:c.575A>G	XP_024304529.1:p.Glu192Gly
NM_003977.4:c.575A>G MANE Select	NP_003968.3:p.Glu192Gly
NM_001302960.2:c.575A>G	NP_001289889.1:p.Glu192Gly
NM_001302959.2:c.398A>G	NP_001289888.1:p.Glu133Gly