Canonical Allele Identifier: CA344163
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 41199
ClinVar RCV Id: RCV000034098
dbSNP Id: rs267606571

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490385C>T , CM000673.2:g.67490385C>T GRCh38
NC_000011.9:g.67257856C>T , CM000673.1:g.67257856C>T GRCh37
NC_000011.8:g.67014432C>T NCBI36
NG_008969.1:g.12352C>T , LRG_460:g.12352C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.692C>T
ENST00000528641.7:c.526C>T ENSP00000434982.3:p.Gln176Ter
ENST00000529797.2:n.1227C>T
ENST00000682324.1:c.469-612C>T ENSP00000508017.1:n.469-612C>T
ENST00000682659.1:c.346C>T ENSP00000507351.1:p.Gln116Ter
ENST00000682699.1:c.715C>T ENSP00000507935.1:p.Gln239Ter
ENST00000683237.1:c.715C>T ENSP00000507343.1:p.Gln239Ter
ENST00000683856.1:c.538C>T ENSP00000507979.1:p.Gln180Ter
ENST00000684006.1:c.715C>T ENSP00000507269.1:p.Gln239Ter
ENST00000684657.1:c.535C>T ENSP00000507961.1:p.Gln179Ter
ENST00000279146.8:c.715C>T MANE Select ENSP00000279146.3:p.Gln239Ter
ENST00000279146.7:c.715C>T ENSP00000279146.3:p.Gln239Ter
ENST00000525341.1:c.367C>T ENSP00000476993.1:p.Gln123Ter
ENST00000528641.6:c.526C>T ENSP00000434982.2:p.Gln176Ter
NM_001302959.1:c.538C>T NP_001289888.1:p.Gln180Ter
NM_001302960.1:c.715C>T NP_001289889.1:p.Gln239Ter
NM_003977.3:c.715C>T NP_003968.3:p.Gln239Ter
XM_024448761.1:c.715C>T XP_024304529.1:p.Gln239Ter
NM_003977.4:c.715C>T MANE Select NP_003968.3:p.Gln239Ter
NM_001302960.2:c.715C>T NP_001289889.1:p.Gln239Ter
NM_001302959.2:c.538C>T NP_001289888.1:p.Gln180Ter