Canonical Allele Identifier: CA381551365
Gene: AIP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490208G>T , CM000673.2:g.67490208G>T GRCh38
NC_000011.9:g.67257679G>T , CM000673.1:g.67257679G>T GRCh37
NC_000011.8:g.67014255G>T NCBI36
NG_008969.1:g.12175G>T , LRG_460:g.12175G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.616G>T
ENST00000528641.7:c.450G>T ENSP00000434982.3:p.Gln150His
ENST00000529797.2:n.1151G>T
ENST00000682324.1:c.468+753G>T ENSP00000508017.1:n.468+753G>T
ENST00000682659.1:c.270G>T ENSP00000507351.1:p.Gln90His
ENST00000682699.1:c.639G>T ENSP00000507935.1:p.Gln213His
ENST00000683237.1:c.639G>T ENSP00000507343.1:p.Gln213His
ENST00000683856.1:c.462G>T ENSP00000507979.1:p.Gln154His
ENST00000684006.1:c.639G>T ENSP00000507269.1:p.Gln213His
ENST00000684657.1:c.459G>T ENSP00000507961.1:p.Gln153His
ENST00000279146.8:c.639G>T MANE Select ENSP00000279146.3:p.Gln213His
ENST00000279146.7:c.639G>T ENSP00000279146.3:p.Gln213His
ENST00000525341.1:c.291G>T ENSP00000476993.1:p.Gln97His
ENST00000528641.6:c.450G>T ENSP00000434982.2:p.Gln150His
NM_001302959.1:c.462G>T NP_001289888.1:p.Gln154His
NM_001302960.1:c.639G>T NP_001289889.1:p.Gln213His
NM_003977.3:c.639G>T NP_003968.3:p.Gln213His
XM_024448761.1:c.639G>T XP_024304529.1:p.Gln213His
NM_003977.4:c.639G>T MANE Select NP_003968.3:p.Gln213His
NM_001302960.2:c.639G>T NP_001289889.1:p.Gln213His
NM_001302959.2:c.462G>T NP_001289888.1:p.Gln154His