Canonical Allele Identifier: CA381554985

Gene: AIP

Linked Data

• ClinVar Variation Id: 1764237
• ClinVar RCV Id: RCV002449666
• dbSNP Id: rs1865895200
• MyVariant Identifiers: chr11:g.67258337C>T (hg19) ; chr11:g.67490866C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490866C>T , CM000673.2:g.67490866C>T	GRCh38
NC_000011.9:g.67258337C>T , CM000673.1:g.67258337C>T	GRCh37
NC_000011.8:g.67014913C>T	NCBI36
NG_008969.1:g.12833C>T , LRG_460:g.12833C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1173C>T
ENST00000528641.7:c.677C>T	ENSP00000434982.3:p.Ala226Val
ENST00000529797.2:n.1708C>T
ENST00000682324.1:c.469-131C>T	ENSP00000508017.1:n.469-131C>T
ENST00000682659.1:c.497C>T	ENSP00000507351.1:p.Ala166Val
ENST00000682699.1:c.866C>T	ENSP00000507935.1:p.Ala289Val
ENST00000683237.1:c.*6C>T	ENSP00000507343.1:n.*6C>T
ENST00000683856.1:c.689C>T	ENSP00000507979.1:p.Ala230Val
ENST00000684006.1:c.*6C>T	ENSP00000507269.1:n.*6C>T
ENST00000684657.1:c.686C>T	ENSP00000507961.1:p.Ala229Val
ENST00000279146.8:c.866C>T MANE Select	ENSP00000279146.3:p.Ala289Val
ENST00000279146.7:c.866C>T	ENSP00000279146.3:p.Ala289Val
ENST00000528641.6:c.677C>T	ENSP00000434982.2:p.Ala226Val
NM_001302959.1:c.689C>T	NP_001289888.1:p.Ala230Val
NM_001302960.1:c.*6C>T	NP_001289889.1:n.*6C>T
NM_003977.3:c.866C>T	NP_003968.3:p.Ala289Val
XM_024448761.1:c.866C>T	XP_024304529.1:p.Ala289Val
NM_003977.4:c.866C>T MANE Select	NP_003968.3:p.Ala289Val
NM_001302960.2:c.*6C>T	NP_001289889.1:n.*6C>T
NM_001302959.2:c.689C>T	NP_001289888.1:p.Ala230Val