Canonical Allele Identifier: CA381550777
Gene: AIP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490121G>T , CM000673.2:g.67490121G>T GRCh38
NC_000011.9:g.67257592G>T , CM000673.1:g.67257592G>T GRCh37
NC_000011.8:g.67014168G>T NCBI36
NG_008969.1:g.12088G>T , LRG_460:g.12088G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.529G>T
ENST00000528641.7:c.363G>T ENSP00000434982.3:p.Gln121His
ENST00000529797.2:n.1064G>T
ENST00000682324.1:c.468+666G>T ENSP00000508017.1:n.468+666G>T
ENST00000682659.1:c.183G>T ENSP00000507351.1:p.Gln61His
ENST00000682699.1:c.552G>T ENSP00000507935.1:p.Gln184His
ENST00000683237.1:c.552G>T ENSP00000507343.1:p.Gln184His
ENST00000683856.1:c.375G>T ENSP00000507979.1:p.Gln125His
ENST00000684006.1:c.552G>T ENSP00000507269.1:p.Gln184His
ENST00000684657.1:c.372G>T ENSP00000507961.1:p.Gln124His
ENST00000279146.8:c.552G>T MANE Select ENSP00000279146.3:p.Gln184His
ENST00000279146.7:c.552G>T ENSP00000279146.3:p.Gln184His
ENST00000525341.1:c.204G>T ENSP00000476993.1:p.Gln68His
ENST00000528641.6:c.363G>T ENSP00000434982.2:p.Gln121His
NM_001302959.1:c.375G>T NP_001289888.1:p.Gln125His
NM_001302960.1:c.552G>T NP_001289889.1:p.Gln184His
NM_003977.3:c.552G>T NP_003968.3:p.Gln184His
XM_024448761.1:c.552G>T XP_024304529.1:p.Gln184His
NM_003977.4:c.552G>T MANE Select NP_003968.3:p.Gln184His
NM_001302960.2:c.552G>T NP_001289889.1:p.Gln184His
NM_001302959.2:c.375G>T NP_001289888.1:p.Gln125His