Canonical Allele Identifier: CA381550429

Gene: AIP

Linked Data

• ClinVar Variation Id: 1422504
• ClinVar RCV Id: RCV001926162 ; RCV002334897
• dbSNP Id: rs2134254587
• MyVariant Identifiers: chr11:g.67257537A>T (hg19) ; chr11:g.67490066A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490066A>T , CM000673.2:g.67490066A>T	GRCh38
NC_000011.9:g.67257537A>T , CM000673.1:g.67257537A>T	GRCh37
NC_000011.8:g.67014113A>T	NCBI36
NG_008969.1:g.12033A>T , LRG_460:g.12033A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.474A>T
ENST00000528641.7:c.308A>T	ENSP00000434982.3:p.Asp103Val
ENST00000529797.2:n.1009A>T
ENST00000682324.1:c.468+611A>T	ENSP00000508017.1:n.468+611A>T
ENST00000682659.1:c.128A>T	ENSP00000507351.1:p.Asp43Val
ENST00000682699.1:c.497A>T	ENSP00000507935.1:p.Asp166Val
ENST00000683237.1:c.497A>T	ENSP00000507343.1:p.Asp166Val
ENST00000683856.1:c.320A>T	ENSP00000507979.1:p.Asp107Val
ENST00000684006.1:c.497A>T	ENSP00000507269.1:p.Asp166Val
ENST00000684657.1:c.317A>T	ENSP00000507961.1:p.Asp106Val
ENST00000279146.8:c.497A>T MANE Select	ENSP00000279146.3:p.Asp166Val
ENST00000279146.7:c.497A>T	ENSP00000279146.3:p.Asp166Val
ENST00000525341.1:c.149A>T	ENSP00000476993.1:p.Asp50Val
ENST00000528641.6:c.308A>T	ENSP00000434982.2:p.Asp103Val
NM_001302959.1:c.320A>T	NP_001289888.1:p.Asp107Val
NM_001302960.1:c.497A>T	NP_001289889.1:p.Asp166Val
NM_003977.3:c.497A>T	NP_003968.3:p.Asp166Val
XM_024448761.1:c.497A>T	XP_024304529.1:p.Asp166Val
NM_003977.4:c.497A>T MANE Select	NP_003968.3:p.Asp166Val
NM_001302960.2:c.497A>T	NP_001289889.1:p.Asp166Val
NM_001302959.2:c.320A>T	NP_001289888.1:p.Asp107Val