Canonical Allele Identifier: CA381555000

Gene: AIP

Linked Data

• dbSNP Id: rs1229978681
• gnomAD v3: 11-67490868-A-G
• gnomAD v4: 11-67490868-A-G
• MyVariant Identifiers: chr11:g.67258339A>G (hg19) ; chr11:g.67490868A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490868A>G , CM000673.2:g.67490868A>G	GRCh38
NC_000011.9:g.67258339A>G , CM000673.1:g.67258339A>G	GRCh37
NC_000011.8:g.67014915A>G	NCBI36
NG_008969.1:g.12835A>G , LRG_460:g.12835A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.1175A>G
ENST00000528641.7:c.679A>G	ENSP00000434982.3:p.Lys227Glu
ENST00000529797.2:n.1710A>G
ENST00000682324.1:c.469-129A>G	ENSP00000508017.1:n.469-129A>G
ENST00000682659.1:c.499A>G	ENSP00000507351.1:p.Lys167Glu
ENST00000682699.1:c.868A>G	ENSP00000507935.1:p.Lys290Glu
ENST00000683237.1:c.*8A>G	ENSP00000507343.1:n.*8A>G
ENST00000683856.1:c.691A>G	ENSP00000507979.1:p.Lys231Glu
ENST00000684006.1:c.*8A>G	ENSP00000507269.1:n.*8A>G
ENST00000684657.1:c.688A>G	ENSP00000507961.1:p.Lys230Glu
ENST00000279146.8:c.868A>G MANE Select	ENSP00000279146.3:p.Lys290Glu
ENST00000279146.7:c.868A>G	ENSP00000279146.3:p.Lys290Glu
ENST00000528641.6:c.679A>G	ENSP00000434982.2:p.Lys227Glu
NM_001302959.1:c.691A>G	NP_001289888.1:p.Lys231Glu
NM_001302960.1:c.*8A>G	NP_001289889.1:n.*8A>G
NM_003977.3:c.868A>G	NP_003968.3:p.Lys290Glu
XM_024448761.1:c.868A>G	XP_024304529.1:p.Lys290Glu
NM_003977.4:c.868A>G MANE Select	NP_003968.3:p.Lys290Glu
NM_001302960.2:c.*8A>G	NP_001289889.1:n.*8A>G
NM_001302959.2:c.691A>G	NP_001289888.1:p.Lys231Glu