Canonical Allele Identifier: CA475509551

Gene: AIP

Linked Data

• ClinVar Variation Id: 3223629
• ClinVar RCV Id: RCV004516393
• gnomAD v4: 11-67490867-C-T
• MyVariant Identifiers: chr11:g.67258338C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490867C>T , CM000673.2:g.67490867C>T	GRCh38
NC_000011.9:g.67258338C>T , CM000673.1:g.67258338C>T	GRCh37
NC_000011.8:g.67014914C>T	NCBI36
NG_008969.1:g.12834C>T , LRG_460:g.12834C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1174C>T
ENST00000528641.7:c.678C>T	ENSP00000434982.3:p.Ala226=
ENST00000529797.2:n.1709C>T
ENST00000682324.1:c.469-130C>T	ENSP00000508017.1:n.469-130C>T
ENST00000682659.1:c.498C>T	ENSP00000507351.1:p.Ala166=
ENST00000682699.1:c.867C>T	ENSP00000507935.1:p.Ala289=
ENST00000683237.1:c.*7C>T	ENSP00000507343.1:n.*7C>T
ENST00000683856.1:c.690C>T	ENSP00000507979.1:p.Ala230=
ENST00000684006.1:c.*7C>T	ENSP00000507269.1:n.*7C>T
ENST00000684657.1:c.687C>T	ENSP00000507961.1:p.Ala229=
ENST00000279146.8:c.867C>T MANE Select	ENSP00000279146.3:p.Ala289=
ENST00000279146.7:c.867C>T	ENSP00000279146.3:p.Ala289=
ENST00000528641.6:c.678C>T	ENSP00000434982.2:p.Ala226=
NM_001302959.1:c.690C>T	NP_001289888.1:p.Ala230=
NM_001302960.1:c.*7C>T	NP_001289889.1:n.*7C>T
NM_003977.3:c.867C>T	NP_003968.3:p.Ala289=
XM_024448761.1:c.867C>T	XP_024304529.1:p.Ala289=
NM_003977.4:c.867C>T MANE Select	NP_003968.3:p.Ala289=
NM_001302960.2:c.*7C>T	NP_001289889.1:n.*7C>T
NM_001302959.2:c.690C>T	NP_001289888.1:p.Ala230=