Canonical Allele Identifier: CA381550869
Gene: AIP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490135T>G , CM000673.2:g.67490135T>G GRCh38
NC_000011.9:g.67257606T>G , CM000673.1:g.67257606T>G GRCh37
NC_000011.8:g.67014182T>G NCBI36
NG_008969.1:g.12102T>G , LRG_460:g.12102T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.543T>G
ENST00000528641.7:c.377T>G ENSP00000434982.3:p.Leu126Trp
ENST00000529797.2:n.1078T>G
ENST00000682324.1:c.468+680T>G ENSP00000508017.1:n.468+680T>G
ENST00000682659.1:c.197T>G ENSP00000507351.1:p.Leu66Trp
ENST00000682699.1:c.566T>G ENSP00000507935.1:p.Leu189Trp
ENST00000683237.1:c.566T>G ENSP00000507343.1:p.Leu189Trp
ENST00000683856.1:c.389T>G ENSP00000507979.1:p.Leu130Trp
ENST00000684006.1:c.566T>G ENSP00000507269.1:p.Leu189Trp
ENST00000684657.1:c.386T>G ENSP00000507961.1:p.Leu129Trp
ENST00000279146.8:c.566T>G MANE Select ENSP00000279146.3:p.Leu189Trp
ENST00000279146.7:c.566T>G ENSP00000279146.3:p.Leu189Trp
ENST00000525341.1:c.218T>G ENSP00000476993.1:p.Leu73Trp
ENST00000528641.6:c.377T>G ENSP00000434982.2:p.Leu126Trp
NM_001302959.1:c.389T>G NP_001289888.1:p.Leu130Trp
NM_001302960.1:c.566T>G NP_001289889.1:p.Leu189Trp
NM_003977.3:c.566T>G NP_003968.3:p.Leu189Trp
XM_024448761.1:c.566T>G XP_024304529.1:p.Leu189Trp
NM_003977.4:c.566T>G MANE Select NP_003968.3:p.Leu189Trp
NM_001302960.2:c.566T>G NP_001289889.1:p.Leu189Trp
NM_001302959.2:c.389T>G NP_001289888.1:p.Leu130Trp