Canonical Allele Identifier: CA381555501

Gene: AIP

Linked Data

• ClinVar Variation Id: 1767980
• ClinVar RCV Id: RCV002376717
• MyVariant Identifiers: chr11:g.67258442T>G (hg19) ; chr11:g.67490971T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490971T>G , CM000673.2:g.67490971T>G	GRCh38
NC_000011.9:g.67258442T>G , CM000673.1:g.67258442T>G	GRCh37
NC_000011.8:g.67015018T>G	NCBI36
NG_008969.1:g.12938T>G , LRG_460:g.12938T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.1278T>G
ENST00000528641.7:c.782T>G	ENSP00000434982.3:p.Phe261Cys
ENST00000529797.2:n.1813T>G
ENST00000682324.1:c.469-26T>G	ENSP00000508017.1:n.469-26T>G
ENST00000682659.1:c.602T>G	ENSP00000507351.1:p.Phe201Cys
ENST00000683237.1:c.*111T>G	ENSP00000507343.1:n.*111T>G
ENST00000683856.1:c.794T>G	ENSP00000507979.1:p.Phe265Cys
ENST00000684006.1:c.*111T>G	ENSP00000507269.1:n.*111T>G
ENST00000684657.1:c.791T>G	ENSP00000507961.1:p.Phe264Cys
ENST00000279146.8:c.971T>G MANE Select	ENSP00000279146.3:p.Phe324Cys
ENST00000279146.7:c.971T>G	ENSP00000279146.3:p.Phe324Cys
NM_001302959.1:c.794T>G	NP_001289888.1:p.Phe265Cys
NM_001302960.1:c.*111T>G	NP_001289889.1:n.*111T>G
NM_003977.3:c.971T>G	NP_003968.3:p.Phe324Cys
XM_024448761.1:c.971T>G	XP_024304529.1:p.Phe324Cys
NM_003977.4:c.971T>G MANE Select	NP_003968.3:p.Phe324Cys
NM_001302960.2:c.*111T>G	NP_001289889.1:n.*111T>G
NM_001302959.2:c.794T>G	NP_001289888.1:p.Phe265Cys