Canonical Allele Identifier: CA381550411

Gene: AIP

Linked Data

• ClinVar Variation Id: 1744460
• ClinVar RCV Id: RCV002342836
• gnomAD v4: 11-67490065-G-A
• MyVariant Identifiers: chr11:g.67257536G>A (hg19) ; chr11:g.67490065G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490065G>A , CM000673.2:g.67490065G>A	GRCh38
NC_000011.9:g.67257536G>A , CM000673.1:g.67257536G>A	GRCh37
NC_000011.8:g.67014112G>A	NCBI36
NG_008969.1:g.12032G>A , LRG_460:g.12032G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.473G>A
ENST00000528641.7:c.307G>A	ENSP00000434982.3:p.Asp103Asn
ENST00000529797.2:n.1008G>A
ENST00000682324.1:c.468+610G>A	ENSP00000508017.1:n.468+610G>A
ENST00000682659.1:c.127G>A	ENSP00000507351.1:p.Asp43Asn
ENST00000682699.1:c.496G>A	ENSP00000507935.1:p.Asp166Asn
ENST00000683237.1:c.496G>A	ENSP00000507343.1:p.Asp166Asn
ENST00000683856.1:c.319G>A	ENSP00000507979.1:p.Asp107Asn
ENST00000684006.1:c.496G>A	ENSP00000507269.1:p.Asp166Asn
ENST00000684657.1:c.316G>A	ENSP00000507961.1:p.Asp106Asn
ENST00000279146.8:c.496G>A MANE Select	ENSP00000279146.3:p.Asp166Asn
ENST00000279146.7:c.496G>A	ENSP00000279146.3:p.Asp166Asn
ENST00000525341.1:c.148G>A	ENSP00000476993.1:p.Asp50Asn
ENST00000528641.6:c.307G>A	ENSP00000434982.2:p.Asp103Asn
NM_001302959.1:c.319G>A	NP_001289888.1:p.Asp107Asn
NM_001302960.1:c.496G>A	NP_001289889.1:p.Asp166Asn
NM_003977.3:c.496G>A	NP_003968.3:p.Asp166Asn
XM_024448761.1:c.496G>A	XP_024304529.1:p.Asp166Asn
NM_003977.4:c.496G>A MANE Select	NP_003968.3:p.Asp166Asn
NM_001302960.2:c.496G>A	NP_001289889.1:p.Asp166Asn
NM_001302959.2:c.319G>A	NP_001289888.1:p.Asp107Asn