Canonical Allele Identifier: CA381550482

Gene: AIP

Linked Data

• ClinVar Variation Id: 3223618
• ClinVar RCV Id: RCV004516382
• gnomAD v4: 11-67490077-A-G
• MyVariant Identifiers: chr11:g.67257548A>G (hg19) ; chr11:g.67490077A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490077A>G , CM000673.2:g.67490077A>G	GRCh38
NC_000011.9:g.67257548A>G , CM000673.1:g.67257548A>G	GRCh37
NC_000011.8:g.67014124A>G	NCBI36
NG_008969.1:g.12044A>G , LRG_460:g.12044A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.485A>G
ENST00000528641.7:c.319A>G	ENSP00000434982.3:p.Met107Val
ENST00000529797.2:n.1020A>G
ENST00000682324.1:c.468+622A>G	ENSP00000508017.1:n.468+622A>G
ENST00000682659.1:c.139A>G	ENSP00000507351.1:p.Met47Val
ENST00000682699.1:c.508A>G	ENSP00000507935.1:p.Met170Val
ENST00000683237.1:c.508A>G	ENSP00000507343.1:p.Met170Val
ENST00000683856.1:c.331A>G	ENSP00000507979.1:p.Met111Val
ENST00000684006.1:c.508A>G	ENSP00000507269.1:p.Met170Val
ENST00000684657.1:c.328A>G	ENSP00000507961.1:p.Met110Val
ENST00000279146.8:c.508A>G MANE Select	ENSP00000279146.3:p.Met170Val
ENST00000279146.7:c.508A>G	ENSP00000279146.3:p.Met170Val
ENST00000525341.1:c.160A>G	ENSP00000476993.1:p.Met54Val
ENST00000528641.6:c.319A>G	ENSP00000434982.2:p.Met107Val
NM_001302959.1:c.331A>G	NP_001289888.1:p.Met111Val
NM_001302960.1:c.508A>G	NP_001289889.1:p.Met170Val
NM_003977.3:c.508A>G	NP_003968.3:p.Met170Val
XM_024448761.1:c.508A>G	XP_024304529.1:p.Met170Val
NM_003977.4:c.508A>G MANE Select	NP_003968.3:p.Met170Val
NM_001302960.2:c.508A>G	NP_001289889.1:p.Met170Val
NM_001302959.2:c.331A>G	NP_001289888.1:p.Met111Val