Canonical Allele Identifier: CA6140676
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 954536
dbSNP Id: rs777083581

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67483231C>T , CM000673.2:g.67483231C>T GRCh38
NC_000011.9:g.67250702C>T , CM000673.1:g.67250702C>T GRCh37
NC_000011.8:g.67007278C>T NCBI36
NG_008969.1:g.5198C>T , LRG_460:g.5198C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.50C>T
ENST00000528641.7:c.73C>T ENSP00000434982.3:p.Leu25Phe
ENST00000529797.2:n.3C>T
ENST00000682324.1:c.73C>T ENSP00000508017.1:p.Leu25Phe
ENST00000682659.1:c.73C>T ENSP00000507351.1:p.Leu25Phe
ENST00000682699.1:c.73C>T ENSP00000507935.1:p.Leu25Phe
ENST00000683237.1:c.73C>T ENSP00000507343.1:p.Leu25Phe
ENST00000684006.1:c.73C>T ENSP00000507269.1:p.Leu25Phe
ENST00000684657.1:c.73C>T ENSP00000507961.1:p.Leu25Phe
ENST00000279146.8:c.73C>T MANE Select ENSP00000279146.3:p.Leu25Phe
ENST00000279146.7:c.73C>T ENSP00000279146.3:p.Leu25Phe
ENST00000528641.6:c.73C>T ENSP00000434982.2:p.Leu25Phe
ENST00000529797.1:n.183C>T
NM_001302960.1:c.73C>T NP_001289889.1:p.Leu25Phe
NM_003977.3:c.73C>T NP_003968.3:p.Leu25Phe
XM_024448761.1:c.73C>T XP_024304529.1:p.Leu25Phe
NM_003977.4:c.73C>T MANE Select NP_003968.3:p.Leu25Phe
NM_001302960.2:c.73C>T NP_001289889.1:p.Leu25Phe