Canonical Allele Identifier: CA381555137

Gene: AIP

Linked Data

• ClinVar Variation Id: 1474638
• ClinVar RCV Id: RCV001973530 ; RCV002370642
• dbSNP Id: rs1384518387
• gnomAD v2: 11-67258356-C-G
• MyVariant Identifiers: chr11:g.67258356C>G (hg19) ; chr11:g.67490885C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490885C>G , CM000673.2:g.67490885C>G	GRCh38
NC_000011.9:g.67258356C>G , CM000673.1:g.67258356C>G	GRCh37
NC_000011.8:g.67014932C>G	NCBI36
NG_008969.1:g.12852C>G , LRG_460:g.12852C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1192C>G
ENST00000528641.7:c.696C>G	ENSP00000434982.3:p.Asp232Glu
ENST00000529797.2:n.1727C>G
ENST00000682324.1:c.469-112C>G	ENSP00000508017.1:n.469-112C>G
ENST00000682659.1:c.516C>G	ENSP00000507351.1:p.Asp172Glu
ENST00000682699.1:c.885C>G	ENSP00000507935.1:p.Asp295Glu
ENST00000683237.1:c.*25C>G	ENSP00000507343.1:n.*25C>G
ENST00000683856.1:c.708C>G	ENSP00000507979.1:p.Asp236Glu
ENST00000684006.1:c.*25C>G	ENSP00000507269.1:n.*25C>G
ENST00000684657.1:c.705C>G	ENSP00000507961.1:p.Asp235Glu
ENST00000279146.8:c.885C>G MANE Select	ENSP00000279146.3:p.Asp295Glu
ENST00000279146.7:c.885C>G	ENSP00000279146.3:p.Asp295Glu
ENST00000528641.6:c.696C>G	ENSP00000434982.2:p.Asp232Glu
NM_001302959.1:c.708C>G	NP_001289888.1:p.Asp236Glu
NM_001302960.1:c.*25C>G	NP_001289889.1:n.*25C>G
NM_003977.3:c.885C>G	NP_003968.3:p.Asp295Glu
XM_024448761.1:c.885C>G	XP_024304529.1:p.Asp295Glu
NM_003977.4:c.885C>G MANE Select	NP_003968.3:p.Asp295Glu
NM_001302960.2:c.*25C>G	NP_001289889.1:n.*25C>G
NM_001302959.2:c.708C>G	NP_001289888.1:p.Asp236Glu