Canonical Allele Identifier: CA381551255
Gene: AIP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490194C>T , CM000673.2:g.67490194C>T GRCh38
NC_000011.9:g.67257665C>T , CM000673.1:g.67257665C>T GRCh37
NC_000011.8:g.67014241C>T NCBI36
NG_008969.1:g.12161C>T , LRG_460:g.12161C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.602C>T
ENST00000528641.7:c.436C>T ENSP00000434982.3:p.Leu146Phe
ENST00000529797.2:n.1137C>T
ENST00000682324.1:c.468+739C>T ENSP00000508017.1:n.468+739C>T
ENST00000682659.1:c.256C>T ENSP00000507351.1:p.Leu86Phe
ENST00000682699.1:c.625C>T ENSP00000507935.1:p.Leu209Phe
ENST00000683237.1:c.625C>T ENSP00000507343.1:p.Leu209Phe
ENST00000683856.1:c.448C>T ENSP00000507979.1:p.Leu150Phe
ENST00000684006.1:c.625C>T ENSP00000507269.1:p.Leu209Phe
ENST00000684657.1:c.445C>T ENSP00000507961.1:p.Leu149Phe
ENST00000279146.8:c.625C>T MANE Select ENSP00000279146.3:p.Leu209Phe
ENST00000279146.7:c.625C>T ENSP00000279146.3:p.Leu209Phe
ENST00000525341.1:c.277C>T ENSP00000476993.1:p.Leu93Phe
ENST00000528641.6:c.436C>T ENSP00000434982.2:p.Leu146Phe
NM_001302959.1:c.448C>T NP_001289888.1:p.Leu150Phe
NM_001302960.1:c.625C>T NP_001289889.1:p.Leu209Phe
NM_003977.3:c.625C>T NP_003968.3:p.Leu209Phe
XM_024448761.1:c.625C>T XP_024304529.1:p.Leu209Phe
NM_003977.4:c.625C>T MANE Select NP_003968.3:p.Leu209Phe
NM_001302960.2:c.625C>T NP_001289889.1:p.Leu209Phe
NM_001302959.2:c.448C>T NP_001289888.1:p.Leu150Phe