Canonical Allele Identifier: CA475509561
Gene: AIP HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.67258345C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490874C>T , CM000673.2:g.67490874C>T GRCh38
NC_000011.9:g.67258345C>T , CM000673.1:g.67258345C>T GRCh37
NC_000011.8:g.67014921C>T NCBI36
NG_008969.1:g.12841C>T , LRG_460:g.12841C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.1181C>T
ENST00000528641.7:c.685C>T ENSP00000434982.3:p.Leu229=
ENST00000529797.2:n.1716C>T
ENST00000682324.1:c.469-123C>T ENSP00000508017.1:n.469-123C>T
ENST00000682659.1:c.505C>T ENSP00000507351.1:p.Leu169=
ENST00000682699.1:c.874C>T ENSP00000507935.1:p.Leu292=
ENST00000683237.1:c.*14C>T ENSP00000507343.1:n.*14C>T
ENST00000683856.1:c.697C>T ENSP00000507979.1:p.Leu233=
ENST00000684006.1:c.*14C>T ENSP00000507269.1:n.*14C>T
ENST00000684657.1:c.694C>T ENSP00000507961.1:p.Leu232=
ENST00000279146.8:c.874C>T MANE Select ENSP00000279146.3:p.Leu292=
ENST00000279146.7:c.874C>T ENSP00000279146.3:p.Leu292=
ENST00000528641.6:c.685C>T ENSP00000434982.2:p.Leu229=
NM_001302959.1:c.697C>T NP_001289888.1:p.Leu233=
NM_001302960.1:c.*14C>T NP_001289889.1:n.*14C>T
NM_003977.3:c.874C>T NP_003968.3:p.Leu292=
XM_024448761.1:c.874C>T XP_024304529.1:p.Leu292=
NM_003977.4:c.874C>T MANE Select NP_003968.3:p.Leu292=
NM_001302960.2:c.*14C>T NP_001289889.1:n.*14C>T
NM_001302959.2:c.697C>T NP_001289888.1:p.Leu233=