Canonical Allele Identifier: CA344063
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 41164
dbSNP Id: rs1063385

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67487051G>A , CM000673.2:g.67487051G>A GRCh38
NC_000011.9:g.67254522G>A , CM000673.1:g.67254522G>A GRCh37
NC_000011.8:g.67011098G>A NCBI36
NG_008969.1:g.9018G>A , LRG_460:g.9018G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.122G>A
ENST00000528641.7:c.145G>A ENSP00000434982.3:p.Val49Met
ENST00000529797.2:n.75G>A
ENST00000682324.1:c.145G>A ENSP00000508017.1:p.Val49Met
ENST00000682659.1:c.100-2987G>A ENSP00000507351.1:n.100-2987G>A
ENST00000682699.1:c.145G>A ENSP00000507935.1:p.Val49Met
ENST00000683237.1:c.145G>A ENSP00000507343.1:p.Val49Met
ENST00000683856.1:c.-33G>A ENSP00000507979.1:n.-33G>A
ENST00000684006.1:c.145G>A ENSP00000507269.1:p.Val49Met
ENST00000684657.1:c.100-2216G>A ENSP00000507961.1:n.100-2216G>A
ENST00000279146.8:c.145G>A MANE Select ENSP00000279146.3:p.Val49Met
ENST00000279146.7:c.145G>A ENSP00000279146.3:p.Val49Met
ENST00000528641.6:c.145G>A ENSP00000434982.2:p.Val49Met
ENST00000529797.1:n.255G>A
NM_001302959.1:c.-33G>A NP_001289888.1:n.-33G>A
NM_001302960.1:c.145G>A NP_001289889.1:p.Val49Met
NM_003977.3:c.145G>A NP_003968.3:p.Val49Met
XM_024448761.1:c.145G>A XP_024304529.1:p.Val49Met
NM_003977.4:c.145G>A MANE Select NP_003968.3:p.Val49Met
NM_001302960.2:c.145G>A NP_001289889.1:p.Val49Met
NM_001302959.2:c.-33G>A NP_001289888.1:n.-33G>A