Canonical Allele Identifier: CA381555405
Gene: AIP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490937A>C , CM000673.2:g.67490937A>C GRCh38
NC_000011.9:g.67258408A>C , CM000673.1:g.67258408A>C GRCh37
NC_000011.8:g.67014984A>C NCBI36
NG_008969.1:g.12904A>C , LRG_460:g.12904A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.1244A>C
ENST00000528641.7:c.748A>C ENSP00000434982.3:p.Ile250Leu
ENST00000529797.2:n.1779A>C
ENST00000682324.1:c.469-60A>C ENSP00000508017.1:n.469-60A>C
ENST00000682659.1:c.568A>C ENSP00000507351.1:p.Ile190Leu
ENST00000682699.1:c.937A>C ENSP00000507935.1:p.Ile313Leu
ENST00000683237.1:c.*77A>C ENSP00000507343.1:n.*77A>C
ENST00000683856.1:c.760A>C ENSP00000507979.1:p.Ile254Leu
ENST00000684006.1:c.*77A>C ENSP00000507269.1:n.*77A>C
ENST00000684657.1:c.757A>C ENSP00000507961.1:p.Ile253Leu
ENST00000279146.8:c.937A>C MANE Select ENSP00000279146.3:p.Ile313Leu
ENST00000279146.7:c.937A>C ENSP00000279146.3:p.Ile313Leu
NM_001302959.1:c.760A>C NP_001289888.1:p.Ile254Leu
NM_001302960.1:c.*77A>C NP_001289889.1:n.*77A>C
NM_003977.3:c.937A>C NP_003968.3:p.Ile313Leu
XM_024448761.1:c.937A>C XP_024304529.1:p.Ile313Leu
NM_003977.4:c.937A>C MANE Select NP_003968.3:p.Ile313Leu
NM_001302960.2:c.*77A>C NP_001289889.1:n.*77A>C
NM_001302959.2:c.760A>C NP_001289888.1:p.Ile254Leu