Canonical Allele Identifier: CA395919363
Gene: AKTIP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.53494175A>G , CM000678.2:g.53494175A>G GRCh38
NC_000016.9:g.53528087A>G , CM000678.1:g.53528087A>G GRCh37
NC_000016.8:g.52085588A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000394657.12:c.673T>C MANE Select ENSP00000378152.6:p.Phe225Leu
ENST00000300245.8:c.673T>C ENSP00000300245.4:p.Phe225Leu
ENST00000394657.11:c.673T>C ENSP00000378152.6:p.Phe225Leu
ENST00000570004.5:c.673T>C ENSP00000455874.1:p.Phe225Leu
NM_001012398.1:c.673T>C NP_001012398.1:p.Phe225Leu
NM_001012398.2:c.673T>C NP_001012398.1:p.Phe225Leu
NM_001308325.1:c.673T>C NP_001295254.1:p.Phe225Leu
NM_022476.2:c.673T>C NP_071921.1:p.Phe225Leu
NM_022476.3:c.673T>C NP_071921.1:p.Phe225Leu
XM_005256095.3:c.673T>C XP_005256152.1:p.Phe225Leu
XM_005256096.3:c.673T>C XP_005256153.1:p.Phe225Leu
XM_005256097.3:c.673T>C XP_005256154.1:p.Phe225Leu
XM_005256098.3:c.673T>C XP_005256155.1:p.Phe225Leu
XM_005256095.5:c.673T>C XP_005256152.1:p.Phe225Leu
XM_005256096.5:c.673T>C XP_005256153.1:p.Phe225Leu
XM_005256097.5:c.673T>C XP_005256154.1:p.Phe225Leu
XM_005256098.5:c.673T>C XP_005256155.1:p.Phe225Leu
XM_017023564.2:c.673T>C XP_016879053.1:p.Phe225Leu
XM_017023565.1:c.673T>C XP_016879054.1:p.Phe225Leu
XM_017023566.1:c.673T>C XP_016879055.1:p.Phe225Leu
NM_022476.4:c.673T>C MANE Select NP_071921.1:p.Phe225Leu
NM_001012398.3:c.673T>C NP_001012398.1:p.Phe225Leu
NM_001308325.2:c.673T>C NP_001295254.1:p.Phe225Leu