Canonical Allele Identifier: CA344120
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 41185
dbSNP Id: rs104895073

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490059C>T , CM000673.2:g.67490059C>T GRCh38
NC_000011.9:g.67257530C>T , CM000673.1:g.67257530C>T GRCh37
NC_000011.8:g.67014106C>T NCBI36
NG_008969.1:g.12026C>T , LRG_460:g.12026C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.467C>T
ENST00000528641.7:c.301C>T ENSP00000434982.3:p.Gln101Ter
ENST00000529797.2:n.1002C>T
ENST00000682324.1:c.468+604C>T ENSP00000508017.1:n.468+604C>T
ENST00000682659.1:c.121C>T ENSP00000507351.1:p.Gln41Ter
ENST00000682699.1:c.490C>T ENSP00000507935.1:p.Gln164Ter
ENST00000683237.1:c.490C>T ENSP00000507343.1:p.Gln164Ter
ENST00000683856.1:c.313C>T ENSP00000507979.1:p.Gln105Ter
ENST00000684006.1:c.490C>T ENSP00000507269.1:p.Gln164Ter
ENST00000684657.1:c.310C>T ENSP00000507961.1:p.Gln104Ter
ENST00000279146.8:c.490C>T MANE Select ENSP00000279146.3:p.Gln164Ter
ENST00000279146.7:c.490C>T ENSP00000279146.3:p.Gln164Ter
ENST00000525341.1:c.142C>T ENSP00000476993.1:p.Gln48Ter
ENST00000528641.6:c.301C>T ENSP00000434982.2:p.Gln101Ter
NM_001302959.1:c.313C>T NP_001289888.1:p.Gln105Ter
NM_001302960.1:c.490C>T NP_001289889.1:p.Gln164Ter
NM_003977.3:c.490C>T NP_003968.3:p.Gln164Ter
XM_024448761.1:c.490C>T XP_024304529.1:p.Gln164Ter
NM_003977.4:c.490C>T MANE Select NP_003968.3:p.Gln164Ter
NM_001302960.2:c.490C>T NP_001289889.1:p.Gln164Ter
NM_001302959.2:c.313C>T NP_001289888.1:p.Gln105Ter