Canonical Allele Identifier: CA475509574
Gene: AIP HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.67258351C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490880C>T , CM000673.2:g.67490880C>T GRCh38
NC_000011.9:g.67258351C>T , CM000673.1:g.67258351C>T GRCh37
NC_000011.8:g.67014927C>T NCBI36
NG_008969.1:g.12847C>T , LRG_460:g.12847C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.1187C>T
ENST00000528641.7:c.691C>T ENSP00000434982.3:p.Leu231=
ENST00000529797.2:n.1722C>T
ENST00000682324.1:c.469-117C>T ENSP00000508017.1:n.469-117C>T
ENST00000682659.1:c.511C>T ENSP00000507351.1:p.Leu171=
ENST00000682699.1:c.880C>T ENSP00000507935.1:p.Leu294=
ENST00000683237.1:c.*20C>T ENSP00000507343.1:n.*20C>T
ENST00000683856.1:c.703C>T ENSP00000507979.1:p.Leu235=
ENST00000684006.1:c.*20C>T ENSP00000507269.1:n.*20C>T
ENST00000684657.1:c.700C>T ENSP00000507961.1:p.Leu234=
ENST00000279146.8:c.880C>T MANE Select ENSP00000279146.3:p.Leu294=
ENST00000279146.7:c.880C>T ENSP00000279146.3:p.Leu294=
ENST00000528641.6:c.691C>T ENSP00000434982.2:p.Leu231=
NM_001302959.1:c.703C>T NP_001289888.1:p.Leu235=
NM_001302960.1:c.*20C>T NP_001289889.1:n.*20C>T
NM_003977.3:c.880C>T NP_003968.3:p.Leu294=
XM_024448761.1:c.880C>T XP_024304529.1:p.Leu294=
NM_003977.4:c.880C>T MANE Select NP_003968.3:p.Leu294=
NM_001302960.2:c.*20C>T NP_001289889.1:n.*20C>T
NM_001302959.2:c.703C>T NP_001289888.1:p.Leu235=