Canonical Allele Identifier: CA6141013
Gene: AIP HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490967C>T , CM000673.2:g.67490967C>T GRCh38
NC_000011.9:g.67258438C>T , CM000673.1:g.67258438C>T GRCh37
NC_000011.8:g.67015014C>T NCBI36
NG_008969.1:g.12934C>T , LRG_460:g.12934C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.1274C>T
ENST00000528641.7:c.778C>T ENSP00000434982.3:p.Arg260Trp
ENST00000529797.2:n.1809C>T
ENST00000682324.1:c.469-30C>T ENSP00000508017.1:n.469-30C>T
ENST00000682659.1:c.598C>T ENSP00000507351.1:p.Arg200Trp
ENST00000683237.1:c.*107C>T ENSP00000507343.1:n.*107C>T
ENST00000683856.1:c.790C>T ENSP00000507979.1:p.Arg264Trp
ENST00000684006.1:c.*107C>T ENSP00000507269.1:n.*107C>T
ENST00000684657.1:c.787C>T ENSP00000507961.1:p.Arg263Trp
ENST00000279146.8:c.967C>T MANE Select ENSP00000279146.3:p.Arg323Trp
ENST00000279146.7:c.967C>T ENSP00000279146.3:p.Arg323Trp
NM_001302959.1:c.790C>T NP_001289888.1:p.Arg264Trp
NM_001302960.1:c.*107C>T NP_001289889.1:n.*107C>T
NM_003977.3:c.967C>T NP_003968.3:p.Arg323Trp
XM_024448761.1:c.967C>T XP_024304529.1:p.Arg323Trp
NM_003977.4:c.967C>T MANE Select NP_003968.3:p.Arg323Trp
NM_001302960.2:c.*107C>T NP_001289889.1:n.*107C>T
NM_001302959.2:c.790C>T NP_001289888.1:p.Arg264Trp