Canonical Allele Identifier: CA381550969
Gene: AIP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490152G>T , CM000673.2:g.67490152G>T GRCh38
NC_000011.9:g.67257623G>T , CM000673.1:g.67257623G>T GRCh37
NC_000011.8:g.67014199G>T NCBI36
NG_008969.1:g.12119G>T , LRG_460:g.12119G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.560G>T
ENST00000528641.7:c.394G>T ENSP00000434982.3:p.Val132Leu
ENST00000529797.2:n.1095G>T
ENST00000682324.1:c.468+697G>T ENSP00000508017.1:n.468+697G>T
ENST00000682659.1:c.214G>T ENSP00000507351.1:p.Val72Leu
ENST00000682699.1:c.583G>T ENSP00000507935.1:p.Val195Leu
ENST00000683237.1:c.583G>T ENSP00000507343.1:p.Val195Leu
ENST00000683856.1:c.406G>T ENSP00000507979.1:p.Val136Leu
ENST00000684006.1:c.583G>T ENSP00000507269.1:p.Val195Leu
ENST00000684657.1:c.403G>T ENSP00000507961.1:p.Val135Leu
ENST00000279146.8:c.583G>T MANE Select ENSP00000279146.3:p.Val195Leu
ENST00000279146.7:c.583G>T ENSP00000279146.3:p.Val195Leu
ENST00000525341.1:c.235G>T ENSP00000476993.1:p.Val79Leu
ENST00000528641.6:c.394G>T ENSP00000434982.2:p.Val132Leu
NM_001302959.1:c.406G>T NP_001289888.1:p.Val136Leu
NM_001302960.1:c.583G>T NP_001289889.1:p.Val195Leu
NM_003977.3:c.583G>T NP_003968.3:p.Val195Leu
XM_024448761.1:c.583G>T XP_024304529.1:p.Val195Leu
NM_003977.4:c.583G>T MANE Select NP_003968.3:p.Val195Leu
NM_001302960.2:c.583G>T NP_001289889.1:p.Val195Leu
NM_001302959.2:c.406G>T NP_001289888.1:p.Val136Leu