Canonical Allele Identifier: CA344130
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 41189
dbSNP Id: rs267606561

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490153T>C , CM000673.2:g.67490153T>C GRCh38
NC_000011.9:g.67257624T>C , CM000673.1:g.67257624T>C GRCh37
NC_000011.8:g.67014200T>C NCBI36
NG_008969.1:g.12120T>C , LRG_460:g.12120T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.561T>C
ENST00000528641.7:c.395T>C ENSP00000434982.3:p.Val132Ala
ENST00000529797.2:n.1096T>C
ENST00000682324.1:c.468+698T>C ENSP00000508017.1:n.468+698T>C
ENST00000682659.1:c.215T>C ENSP00000507351.1:p.Val72Ala
ENST00000682699.1:c.584T>C ENSP00000507935.1:p.Val195Ala
ENST00000683237.1:c.584T>C ENSP00000507343.1:p.Val195Ala
ENST00000683856.1:c.407T>C ENSP00000507979.1:p.Val136Ala
ENST00000684006.1:c.584T>C ENSP00000507269.1:p.Val195Ala
ENST00000684657.1:c.404T>C ENSP00000507961.1:p.Val135Ala
ENST00000279146.8:c.584T>C MANE Select ENSP00000279146.3:p.Val195Ala
ENST00000279146.7:c.584T>C ENSP00000279146.3:p.Val195Ala
ENST00000525341.1:c.236T>C ENSP00000476993.1:p.Val79Ala
ENST00000528641.6:c.395T>C ENSP00000434982.2:p.Val132Ala
NM_001302959.1:c.407T>C NP_001289888.1:p.Val136Ala
NM_001302960.1:c.584T>C NP_001289889.1:p.Val195Ala
NM_003977.3:c.584T>C NP_003968.3:p.Val195Ala
XM_024448761.1:c.584T>C XP_024304529.1:p.Val195Ala
NM_003977.4:c.584T>C MANE Select NP_003968.3:p.Val195Ala
NM_001302960.2:c.584T>C NP_001289889.1:p.Val195Ala
NM_001302959.2:c.407T>C NP_001289888.1:p.Val136Ala