Canonical Allele Identifier: CA381551601
Community Standard Title: NM_003977.4(AIP):c.685C>G (p.Gln229Glu)
Gene: AIP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490355C>G , CM000673.2:g.67490355C>G GRCh38
NC_000011.9:g.67257826C>G , CM000673.1:g.67257826C>G GRCh37
NC_000011.8:g.67014402C>G NCBI36
NG_008969.1:g.12322C>G , LRG_460:g.12322C>G

Transcript Alleles

HGVS Amino-acid Change
NM_003977.4:c.685C>G MANE Select NP_003968.3:p.Gln229Glu
ENST00000279146.8:c.685C>G MANE Select ENSP00000279146.3:p.Gln229Glu
NM_001302959.1:c.508C>G NP_001289888.1:p.Gln170Glu
NM_001302959.2:c.508C>G NP_001289888.1:p.Gln170Glu
NM_001302960.1:c.685C>G NP_001289889.1:p.Gln229Glu
NM_001302960.2:c.685C>G NP_001289889.1:p.Gln229Glu
NM_003977.3:c.685C>G NP_003968.3:p.Gln229Glu
ENST00000279146.7:c.685C>G ENSP00000279146.3:p.Gln229Glu
ENST00000525341.1:c.337C>G ENSP00000476993.1:p.Gln113Glu
ENST00000525341.2:c.662C>G
ENST00000528641.6:c.496C>G ENSP00000434982.2:p.Gln166Glu
ENST00000528641.7:c.496C>G ENSP00000434982.3:p.Gln166Glu
ENST00000529797.2:n.1197C>G
ENST00000682324.1:c.469-642C>G ENSP00000508017.1:n.469-642C>G
ENST00000682659.1:c.316C>G ENSP00000507351.1:p.Gln106Glu
ENST00000682699.1:c.685C>G ENSP00000507935.1:p.Gln229Glu
ENST00000683237.1:c.685C>G ENSP00000507343.1:p.Gln229Glu
ENST00000683856.1:c.508C>G ENSP00000507979.1:p.Gln170Glu
ENST00000684006.1:c.685C>G ENSP00000507269.1:p.Gln229Glu
ENST00000684657.1:c.505C>G ENSP00000507961.1:p.Gln169Glu
XM_024448761.1:c.685C>G XP_024304529.1:p.Gln229Glu