Canonical Allele Identifier: CA381550700
Gene: AIP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490111T>A , CM000673.2:g.67490111T>A GRCh38
NC_000011.9:g.67257582T>A , CM000673.1:g.67257582T>A GRCh37
NC_000011.8:g.67014158T>A NCBI36
NG_008969.1:g.12078T>A , LRG_460:g.12078T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.519T>A
ENST00000528641.7:c.353T>A ENSP00000434982.3:p.Leu118His
ENST00000529797.2:n.1054T>A
ENST00000682324.1:c.468+656T>A ENSP00000508017.1:n.468+656T>A
ENST00000682659.1:c.173T>A ENSP00000507351.1:p.Leu58His
ENST00000682699.1:c.542T>A ENSP00000507935.1:p.Leu181His
ENST00000683237.1:c.542T>A ENSP00000507343.1:p.Leu181His
ENST00000683856.1:c.365T>A ENSP00000507979.1:p.Leu122His
ENST00000684006.1:c.542T>A ENSP00000507269.1:p.Leu181His
ENST00000684657.1:c.362T>A ENSP00000507961.1:p.Leu121His
ENST00000279146.8:c.542T>A MANE Select ENSP00000279146.3:p.Leu181His
ENST00000279146.7:c.542T>A ENSP00000279146.3:p.Leu181His
ENST00000525341.1:c.194T>A ENSP00000476993.1:p.Leu65His
ENST00000528641.6:c.353T>A ENSP00000434982.2:p.Leu118His
NM_001302959.1:c.365T>A NP_001289888.1:p.Leu122His
NM_001302960.1:c.542T>A NP_001289889.1:p.Leu181His
NM_003977.3:c.542T>A NP_003968.3:p.Leu181His
XM_024448761.1:c.542T>A XP_024304529.1:p.Leu181His
NM_003977.4:c.542T>A MANE Select NP_003968.3:p.Leu181His
NM_001302960.2:c.542T>A NP_001289889.1:p.Leu181His
NM_001302959.2:c.365T>A NP_001289888.1:p.Leu122His