Canonical Allele Identifier: CA381547273
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 1425200
ClinVar RCV Id: RCV001924342
dbSNP Id: rs1244421116

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67487160T>C , CM000673.2:g.67487160T>C GRCh38
NC_000011.9:g.67254631T>C , CM000673.1:g.67254631T>C GRCh37
NC_000011.8:g.67011207T>C NCBI36
NG_008969.1:g.9127T>C , LRG_460:g.9127T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.231T>C
ENST00000528641.7:c.254T>C ENSP00000434982.3:p.Ile85Thr
ENST00000529797.2:n.184T>C
ENST00000682324.1:c.254T>C ENSP00000508017.1:p.Ile85Thr
ENST00000682659.1:c.100-2878T>C ENSP00000507351.1:n.100-2878T>C
ENST00000682699.1:c.254T>C ENSP00000507935.1:p.Ile85Thr
ENST00000683237.1:c.254T>C ENSP00000507343.1:p.Ile85Thr
ENST00000683856.1:c.77T>C ENSP00000507979.1:p.Ile26Thr
ENST00000684006.1:c.254T>C ENSP00000507269.1:p.Ile85Thr
ENST00000684657.1:c.100-2107T>C ENSP00000507961.1:n.100-2107T>C
ENST00000279146.8:c.254T>C MANE Select ENSP00000279146.3:p.Ile85Thr
ENST00000279146.7:c.254T>C ENSP00000279146.3:p.Ile85Thr
ENST00000528641.6:c.254T>C ENSP00000434982.2:p.Ile85Thr
ENST00000529797.1:n.364T>C
NM_001302959.1:c.77T>C NP_001289888.1:p.Ile26Thr
NM_001302960.1:c.254T>C NP_001289889.1:p.Ile85Thr
NM_003977.3:c.254T>C NP_003968.3:p.Ile85Thr
XM_024448761.1:c.254T>C XP_024304529.1:p.Ile85Thr
NM_003977.4:c.254T>C MANE Select NP_003968.3:p.Ile85Thr
NM_001302960.2:c.254T>C NP_001289889.1:p.Ile85Thr
NM_001302959.2:c.77T>C NP_001289888.1:p.Ile26Thr