Canonical Allele Identifier: CA381551531
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 2112809
ClinVar RCV Id: RCV003034760

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490342C>G , CM000673.2:g.67490342C>G GRCh38
NC_000011.9:g.67257813C>G , CM000673.1:g.67257813C>G GRCh37
NC_000011.8:g.67014389C>G NCBI36
NG_008969.1:g.12309C>G , LRG_460:g.12309C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.649C>G
ENST00000528641.7:c.483C>G ENSP00000434982.3:p.Ile161Met
ENST00000529797.2:n.1184C>G
ENST00000682324.1:c.469-655C>G ENSP00000508017.1:n.469-655C>G
ENST00000682659.1:c.303C>G ENSP00000507351.1:p.Ile101Met
ENST00000682699.1:c.672C>G ENSP00000507935.1:p.Ile224Met
ENST00000683237.1:c.672C>G ENSP00000507343.1:p.Ile224Met
ENST00000683856.1:c.495C>G ENSP00000507979.1:p.Ile165Met
ENST00000684006.1:c.672C>G ENSP00000507269.1:p.Ile224Met
ENST00000684657.1:c.492C>G ENSP00000507961.1:p.Ile164Met
ENST00000279146.8:c.672C>G MANE Select ENSP00000279146.3:p.Ile224Met
ENST00000279146.7:c.672C>G ENSP00000279146.3:p.Ile224Met
ENST00000525341.1:c.324C>G ENSP00000476993.1:p.Ile108Met
ENST00000528641.6:c.483C>G ENSP00000434982.2:p.Ile161Met
NM_001302959.1:c.495C>G NP_001289888.1:p.Ile165Met
NM_001302960.1:c.672C>G NP_001289889.1:p.Ile224Met
NM_003977.3:c.672C>G NP_003968.3:p.Ile224Met
XM_024448761.1:c.672C>G XP_024304529.1:p.Ile224Met
NM_003977.4:c.672C>G MANE Select NP_003968.3:p.Ile224Met
NM_001302960.2:c.672C>G NP_001289889.1:p.Ile224Met
NM_001302959.2:c.495C>G NP_001289888.1:p.Ile165Met