Canonical Allele Identifier: CA381550378
Gene: AIP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490061G>C , CM000673.2:g.67490061G>C GRCh38
NC_000011.9:g.67257532G>C , CM000673.1:g.67257532G>C GRCh37
NC_000011.8:g.67014108G>C NCBI36
NG_008969.1:g.12028G>C , LRG_460:g.12028G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.469G>C
ENST00000528641.7:c.303G>C ENSP00000434982.3:p.Gln101His
ENST00000529797.2:n.1004G>C
ENST00000682324.1:c.468+606G>C ENSP00000508017.1:n.468+606G>C
ENST00000682659.1:c.123G>C ENSP00000507351.1:p.Gln41His
ENST00000682699.1:c.492G>C ENSP00000507935.1:p.Gln164His
ENST00000683237.1:c.492G>C ENSP00000507343.1:p.Gln164His
ENST00000683856.1:c.315G>C ENSP00000507979.1:p.Gln105His
ENST00000684006.1:c.492G>C ENSP00000507269.1:p.Gln164His
ENST00000684657.1:c.312G>C ENSP00000507961.1:p.Gln104His
ENST00000279146.8:c.492G>C MANE Select ENSP00000279146.3:p.Gln164His
ENST00000279146.7:c.492G>C ENSP00000279146.3:p.Gln164His
ENST00000525341.1:c.144G>C ENSP00000476993.1:p.Gln48His
ENST00000528641.6:c.303G>C ENSP00000434982.2:p.Gln101His
NM_001302959.1:c.315G>C NP_001289888.1:p.Gln105His
NM_001302960.1:c.492G>C NP_001289889.1:p.Gln164His
NM_003977.3:c.492G>C NP_003968.3:p.Gln164His
XM_024448761.1:c.492G>C XP_024304529.1:p.Gln164His
NM_003977.4:c.492G>C MANE Select NP_003968.3:p.Gln164His
NM_001302960.2:c.492G>C NP_001289889.1:p.Gln164His
NM_001302959.2:c.315G>C NP_001289888.1:p.Gln105His