Canonical Allele Identifier: CA381546892
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 2105815
ClinVar RCV Id: RCV003023647

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67487098T>G , CM000673.2:g.67487098T>G GRCh38
NC_000011.9:g.67254569T>G , CM000673.1:g.67254569T>G GRCh37
NC_000011.8:g.67011145T>G NCBI36
NG_008969.1:g.9065T>G , LRG_460:g.9065T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.169T>G
ENST00000528641.7:c.192T>G ENSP00000434982.3:p.Ile64Met
ENST00000529797.2:n.122T>G
ENST00000682324.1:c.192T>G ENSP00000508017.1:p.Ile64Met
ENST00000682659.1:c.100-2940T>G ENSP00000507351.1:n.100-2940T>G
ENST00000682699.1:c.192T>G ENSP00000507935.1:p.Ile64Met
ENST00000683237.1:c.192T>G ENSP00000507343.1:p.Ile64Met
ENST00000683856.1:c.15T>G ENSP00000507979.1:p.Ile5Met
ENST00000684006.1:c.192T>G ENSP00000507269.1:p.Ile64Met
ENST00000684657.1:c.100-2169T>G ENSP00000507961.1:n.100-2169T>G
ENST00000279146.8:c.192T>G MANE Select ENSP00000279146.3:p.Ile64Met
ENST00000279146.7:c.192T>G ENSP00000279146.3:p.Ile64Met
ENST00000528641.6:c.192T>G ENSP00000434982.2:p.Ile64Met
ENST00000529797.1:n.302T>G
NM_001302959.1:c.15T>G NP_001289888.1:p.Ile5Met
NM_001302960.1:c.192T>G NP_001289889.1:p.Ile64Met
NM_003977.3:c.192T>G NP_003968.3:p.Ile64Met
XM_024448761.1:c.192T>G XP_024304529.1:p.Ile64Met
NM_003977.4:c.192T>G MANE Select NP_003968.3:p.Ile64Met
NM_001302960.2:c.192T>G NP_001289889.1:p.Ile64Met
NM_001302959.2:c.15T>G NP_001289888.1:p.Ile5Met