Canonical Allele Identifier: CA381551884
Gene: AIP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490424G>C , CM000673.2:g.67490424G>C GRCh38
NC_000011.9:g.67257895G>C , CM000673.1:g.67257895G>C GRCh37
NC_000011.8:g.67014471G>C NCBI36
NG_008969.1:g.12391G>C , LRG_460:g.12391G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.731G>C
ENST00000528641.7:c.565G>C ENSP00000434982.3:p.Asp189His
ENST00000529797.2:n.1266G>C
ENST00000682324.1:c.469-573G>C ENSP00000508017.1:n.469-573G>C
ENST00000682659.1:c.385G>C ENSP00000507351.1:p.Asp129His
ENST00000682699.1:c.754G>C ENSP00000507935.1:p.Asp252His
ENST00000683237.1:c.754G>C ENSP00000507343.1:p.Asp252His
ENST00000683856.1:c.577G>C ENSP00000507979.1:p.Asp193His
ENST00000684006.1:c.754G>C ENSP00000507269.1:p.Asp252His
ENST00000684657.1:c.574G>C ENSP00000507961.1:p.Asp192His
ENST00000279146.8:c.754G>C MANE Select ENSP00000279146.3:p.Asp252His
ENST00000279146.7:c.754G>C ENSP00000279146.3:p.Asp252His
ENST00000525341.1:c.406G>C ENSP00000476993.1:p.Asp136His
ENST00000528641.6:c.565G>C ENSP00000434982.2:p.Asp189His
NM_001302959.1:c.577G>C NP_001289888.1:p.Asp193His
NM_001302960.1:c.754G>C NP_001289889.1:p.Asp252His
NM_003977.3:c.754G>C NP_003968.3:p.Asp252His
XM_024448761.1:c.754G>C XP_024304529.1:p.Asp252His
NM_003977.4:c.754G>C MANE Select NP_003968.3:p.Asp252His
NM_001302960.2:c.754G>C NP_001289889.1:p.Asp252His
NM_001302959.2:c.577G>C NP_001289888.1:p.Asp193His