Canonical Allele Identifier: CA381551477
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 1426839
ClinVar RCV Id: RCV001933488
dbSNP Id: rs2134255259

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490321G>C , CM000673.2:g.67490321G>C GRCh38
NC_000011.9:g.67257792G>C , CM000673.1:g.67257792G>C GRCh37
NC_000011.8:g.67014368G>C NCBI36
NG_008969.1:g.12288G>C , LRG_460:g.12288G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.628G>C
ENST00000528641.7:c.462G>C ENSP00000434982.3:p.Gln154His
ENST00000529797.2:n.1163G>C
ENST00000682324.1:c.469-676G>C ENSP00000508017.1:n.469-676G>C
ENST00000682659.1:c.282G>C ENSP00000507351.1:p.Gln94His
ENST00000682699.1:c.651G>C ENSP00000507935.1:p.Gln217His
ENST00000683237.1:c.651G>C ENSP00000507343.1:p.Gln217His
ENST00000683856.1:c.474G>C ENSP00000507979.1:p.Gln158His
ENST00000684006.1:c.651G>C ENSP00000507269.1:p.Gln217His
ENST00000684657.1:c.471G>C ENSP00000507961.1:p.Gln157His
ENST00000279146.8:c.651G>C MANE Select ENSP00000279146.3:p.Gln217His
ENST00000279146.7:c.651G>C ENSP00000279146.3:p.Gln217His
ENST00000525341.1:c.303G>C ENSP00000476993.1:p.Gln101His
ENST00000528641.6:c.462G>C ENSP00000434982.2:p.Gln154His
NM_001302959.1:c.474G>C NP_001289888.1:p.Gln158His
NM_001302960.1:c.651G>C NP_001289889.1:p.Gln217His
NM_003977.3:c.651G>C NP_003968.3:p.Gln217His
XM_024448761.1:c.651G>C XP_024304529.1:p.Gln217His
NM_003977.4:c.651G>C MANE Select NP_003968.3:p.Gln217His
NM_001302960.2:c.651G>C NP_001289889.1:p.Gln217His
NM_001302959.2:c.474G>C NP_001289888.1:p.Gln158His