Canonical Allele Identifier: CA381554535
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 1762506
ClinVar RCV Id: RCV002427983

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490821C>T , CM000673.2:g.67490821C>T GRCh38
NC_000011.9:g.67258292C>T , CM000673.1:g.67258292C>T GRCh37
NC_000011.8:g.67014868C>T NCBI36
NG_008969.1:g.12788C>T , LRG_460:g.12788C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.1128C>T
ENST00000528641.7:c.632C>T ENSP00000434982.3:p.Ala211Val
ENST00000529797.2:n.1663C>T
ENST00000682324.1:c.469-176C>T ENSP00000508017.1:n.469-176C>T
ENST00000682659.1:c.452C>T ENSP00000507351.1:p.Ala151Val
ENST00000682699.1:c.821C>T ENSP00000507935.1:p.Ala274Val
ENST00000683237.1:c.813C>T ENSP00000507343.1:p.Gly271=
ENST00000683856.1:c.644C>T ENSP00000507979.1:p.Ala215Val
ENST00000684006.1:c.810C>T ENSP00000507269.1:p.Gly270=
ENST00000684657.1:c.641C>T ENSP00000507961.1:p.Ala214Val
ENST00000279146.8:c.821C>T MANE Select ENSP00000279146.3:p.Ala274Val
ENST00000279146.7:c.821C>T ENSP00000279146.3:p.Ala274Val
ENST00000528641.6:c.632C>T ENSP00000434982.2:p.Ala211Val
NM_001302959.1:c.644C>T NP_001289888.1:p.Ala215Val
NM_001302960.1:c.813C>T NP_001289889.1:p.Gly271=
NM_003977.3:c.821C>T NP_003968.3:p.Ala274Val
XM_024448761.1:c.821C>T XP_024304529.1:p.Ala274Val
NM_003977.4:c.821C>T MANE Select NP_003968.3:p.Ala274Val
NM_001302960.2:c.813C>T NP_001289889.1:p.Gly271=
NM_001302959.2:c.644C>T NP_001289888.1:p.Ala215Val