Canonical Allele Identifier: CA381555378

Gene: AIP

Linked Data

• ClinVar Variation Id: 1766456
• ClinVar RCV Id: RCV002371497
• MyVariant Identifiers: chr11:g.67258400A>G (hg19) ; chr11:g.67490929A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490929A>G , CM000673.2:g.67490929A>G	GRCh38
NC_000011.9:g.67258400A>G , CM000673.1:g.67258400A>G	GRCh37
NC_000011.8:g.67014976A>G	NCBI36
NG_008969.1:g.12896A>G , LRG_460:g.12896A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1236A>G
ENST00000528641.7:c.740A>G	ENSP00000434982.3:p.Glu247Gly
ENST00000529797.2:n.1771A>G
ENST00000682324.1:c.469-68A>G	ENSP00000508017.1:n.469-68A>G
ENST00000682659.1:c.560A>G	ENSP00000507351.1:p.Glu187Gly
ENST00000682699.1:c.929A>G	ENSP00000507935.1:p.Glu310Gly
ENST00000683237.1:c.*69A>G	ENSP00000507343.1:n.*69A>G
ENST00000683856.1:c.752A>G	ENSP00000507979.1:p.Glu251Gly
ENST00000684006.1:c.*69A>G	ENSP00000507269.1:n.*69A>G
ENST00000684657.1:c.749A>G	ENSP00000507961.1:p.Glu250Gly
ENST00000279146.8:c.929A>G MANE Select	ENSP00000279146.3:p.Glu310Gly
ENST00000279146.7:c.929A>G	ENSP00000279146.3:p.Glu310Gly
NM_001302959.1:c.752A>G	NP_001289888.1:p.Glu251Gly
NM_001302960.1:c.*69A>G	NP_001289889.1:n.*69A>G
NM_003977.3:c.929A>G	NP_003968.3:p.Glu310Gly
XM_024448761.1:c.929A>G	XP_024304529.1:p.Glu310Gly
NM_003977.4:c.929A>G MANE Select	NP_003968.3:p.Glu310Gly
NM_001302960.2:c.*69A>G	NP_001289889.1:n.*69A>G
NM_001302959.2:c.752A>G	NP_001289888.1:p.Glu251Gly