Canonical Allele Identifier: CA381550867
Gene: AIP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490135T>A , CM000673.2:g.67490135T>A GRCh38
NC_000011.9:g.67257606T>A , CM000673.1:g.67257606T>A GRCh37
NC_000011.8:g.67014182T>A NCBI36
NG_008969.1:g.12102T>A , LRG_460:g.12102T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.543T>A
ENST00000528641.7:c.377T>A ENSP00000434982.3:p.Leu126Ter
ENST00000529797.2:n.1078T>A
ENST00000682324.1:c.468+680T>A ENSP00000508017.1:n.468+680T>A
ENST00000682659.1:c.197T>A ENSP00000507351.1:p.Leu66Ter
ENST00000682699.1:c.566T>A ENSP00000507935.1:p.Leu189Ter
ENST00000683237.1:c.566T>A ENSP00000507343.1:p.Leu189Ter
ENST00000683856.1:c.389T>A ENSP00000507979.1:p.Leu130Ter
ENST00000684006.1:c.566T>A ENSP00000507269.1:p.Leu189Ter
ENST00000684657.1:c.386T>A ENSP00000507961.1:p.Leu129Ter
ENST00000279146.8:c.566T>A MANE Select ENSP00000279146.3:p.Leu189Ter
ENST00000279146.7:c.566T>A ENSP00000279146.3:p.Leu189Ter
ENST00000525341.1:c.218T>A ENSP00000476993.1:p.Leu73Ter
ENST00000528641.6:c.377T>A ENSP00000434982.2:p.Leu126Ter
NM_001302959.1:c.389T>A NP_001289888.1:p.Leu130Ter
NM_001302960.1:c.566T>A NP_001289889.1:p.Leu189Ter
NM_003977.3:c.566T>A NP_003968.3:p.Leu189Ter
XM_024448761.1:c.566T>A XP_024304529.1:p.Leu189Ter
NM_003977.4:c.566T>A MANE Select NP_003968.3:p.Leu189Ter
NM_001302960.2:c.566T>A NP_001289889.1:p.Leu189Ter
NM_001302959.2:c.389T>A NP_001289888.1:p.Leu130Ter