Canonical Allele Identifier: CA475509187

Gene: AIP

Linked Data

• ClinVar Variation Id: 1748468
• ClinVar RCV Id: RCV002344797
• dbSNP Id: rs1202583192
• gnomAD v2: 11-67257598-C-G
• gnomAD v4: 11-67490127-C-G
• MyVariant Identifiers: chr11:g.67257598C>G (hg19) ; chr11:g.67490127C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490127C>G , CM000673.2:g.67490127C>G	GRCh38
NC_000011.9:g.67257598C>G , CM000673.1:g.67257598C>G	GRCh37
NC_000011.8:g.67014174C>G	NCBI36
NG_008969.1:g.12094C>G , LRG_460:g.12094C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.535C>G
ENST00000528641.7:c.369C>G	ENSP00000434982.3:p.Gly123=
ENST00000529797.2:n.1070C>G
ENST00000682324.1:c.468+672C>G	ENSP00000508017.1:n.468+672C>G
ENST00000682659.1:c.189C>G	ENSP00000507351.1:p.Gly63=
ENST00000682699.1:c.558C>G	ENSP00000507935.1:p.Gly186=
ENST00000683237.1:c.558C>G	ENSP00000507343.1:p.Gly186=
ENST00000683856.1:c.381C>G	ENSP00000507979.1:p.Gly127=
ENST00000684006.1:c.558C>G	ENSP00000507269.1:p.Gly186=
ENST00000684657.1:c.378C>G	ENSP00000507961.1:p.Gly126=
ENST00000279146.8:c.558C>G MANE Select	ENSP00000279146.3:p.Gly186=
ENST00000279146.7:c.558C>G	ENSP00000279146.3:p.Gly186=
ENST00000525341.1:c.210C>G	ENSP00000476993.1:p.Gly70=
ENST00000528641.6:c.369C>G	ENSP00000434982.2:p.Gly123=
NM_001302959.1:c.381C>G	NP_001289888.1:p.Gly127=
NM_001302960.1:c.558C>G	NP_001289889.1:p.Gly186=
NM_003977.3:c.558C>G	NP_003968.3:p.Gly186=
XM_024448761.1:c.558C>G	XP_024304529.1:p.Gly186=
NM_003977.4:c.558C>G MANE Select	NP_003968.3:p.Gly186=
NM_001302960.2:c.558C>G	NP_001289889.1:p.Gly186=
NM_001302959.2:c.381C>G	NP_001289888.1:p.Gly127=