Canonical Allele Identifier: CA475509563
Gene: AIP HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.67258347G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490876G>C , CM000673.2:g.67490876G>C GRCh38
NC_000011.9:g.67258347G>C , CM000673.1:g.67258347G>C GRCh37
NC_000011.8:g.67014923G>C NCBI36
NG_008969.1:g.12843G>C , LRG_460:g.12843G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.1183G>C
ENST00000528641.7:c.687G>C ENSP00000434982.3:p.Leu229=
ENST00000529797.2:n.1718G>C
ENST00000682324.1:c.469-121G>C ENSP00000508017.1:n.469-121G>C
ENST00000682659.1:c.507G>C ENSP00000507351.1:p.Leu169=
ENST00000682699.1:c.876G>C ENSP00000507935.1:p.Leu292=
ENST00000683237.1:c.*16G>C ENSP00000507343.1:n.*16G>C
ENST00000683856.1:c.699G>C ENSP00000507979.1:p.Leu233=
ENST00000684006.1:c.*16G>C ENSP00000507269.1:n.*16G>C
ENST00000684657.1:c.696G>C ENSP00000507961.1:p.Leu232=
ENST00000279146.8:c.876G>C MANE Select ENSP00000279146.3:p.Leu292=
ENST00000279146.7:c.876G>C ENSP00000279146.3:p.Leu292=
ENST00000528641.6:c.687G>C ENSP00000434982.2:p.Leu229=
NM_001302959.1:c.699G>C NP_001289888.1:p.Leu233=
NM_001302960.1:c.*16G>C NP_001289889.1:n.*16G>C
NM_003977.3:c.876G>C NP_003968.3:p.Leu292=
XM_024448761.1:c.876G>C XP_024304529.1:p.Leu292=
NM_003977.4:c.876G>C MANE Select NP_003968.3:p.Leu292=
NM_001302960.2:c.*16G>C NP_001289889.1:n.*16G>C
NM_001302959.2:c.699G>C NP_001289888.1:p.Leu233=