Canonical Allele Identifier: CA357895780
Community Standard Title: NM_025144.4(ALPK1):c.1635T>G (p.Phe545Leu)
Gene: ALPK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.112431182T>G , CM000666.2:g.112431182T>G GRCh38
NC_000004.11:g.113352338T>G , CM000666.1:g.113352338T>G GRCh37
NC_000004.10:g.113571787T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_025144.4:c.1635T>G MANE Select NP_079420.3:p.Phe545Leu
ENST00000650871.1:c.1635T>G MANE Select ENSP00000498374.1:p.Phe545Leu
NM_001102406.1:c.1635T>G NP_001095876.1:p.Phe545Leu
NM_001102406.2:c.1635T>G NP_001095876.1:p.Phe545Leu
NM_001253884.1:c.1401T>G NP_001240813.1:p.Phe467Leu
NM_001253884.2:c.1401T>G NP_001240813.1:p.Phe467Leu
NM_025144.3:c.1635T>G NP_079420.3:p.Phe545Leu
ENST00000177648.13:c.1635T>G ENSP00000177648.9:p.Phe545Leu
ENST00000458497.5:c.1635T>G ENSP00000398048.1:p.Phe545Leu
ENST00000458497.6:c.1635T>G ENSP00000398048.1:p.Phe545Leu
ENST00000504176.6:c.1401T>G ENSP00000426044.2:p.Phe467Leu
ENST00000504745.1:n.2123T>G
ENST00000505127.5:c.900+1929T>G ENSP00000425559.1:n.900+1929T>G
ENST00000509722.5:c.*1078T>G ENSP00000424492.1:n.*1078T>G
XM_005263245.3:c.1635T>G XP_005263302.1:p.Phe545Leu
XM_005263245.4:c.1635T>G XP_005263302.1:p.Phe545Leu
XM_005263246.3:c.1635T>G XP_005263303.1:p.Phe545Leu
XM_005263246.4:c.1635T>G XP_005263303.1:p.Phe545Leu
XM_005263247.3:c.1401T>G XP_005263304.1:p.Phe467Leu
XM_005263248.3:c.1401T>G XP_005263305.1:p.Phe467Leu
XM_006714326.2:c.1575T>G XP_006714389.1:p.Phe525Leu
XM_006714326.3:c.1575T>G XP_006714389.1:p.Phe525Leu
XM_011532280.1:c.1635T>G XP_011530582.1:p.Phe545Leu
XM_011532281.1:c.1635T>G XP_011530583.1:p.Phe545Leu
XM_011532282.1:c.1635T>G XP_011530584.1:p.Phe545Leu
XM_011532283.1:c.1635T>G XP_011530585.1:p.Phe545Leu
XM_017008633.1:c.1653T>G XP_016864122.1:p.Phe551Leu
XM_017008634.1:c.1653T>G XP_016864123.1:p.Phe551Leu
XM_017008635.1:c.1653T>G XP_016864124.1:p.Phe551Leu
XM_017008636.1:c.1653T>G XP_016864125.1:p.Phe551Leu
XM_017008637.1:c.1653T>G XP_016864126.1:p.Phe551Leu
XM_017008638.2:c.1653T>G XP_016864127.1:p.Phe551Leu
XM_017008639.1:c.1653T>G XP_016864128.1:p.Phe551Leu
XM_017008640.1:c.1653T>G XP_016864129.1:p.Phe551Leu
XM_017008641.2:c.1653T>G XP_016864130.1:p.Phe551Leu
XM_017008642.1:c.1653T>G XP_016864131.1:p.Phe551Leu
XM_017008643.1:c.1593T>G XP_016864132.1:p.Phe531Leu
XM_017008644.1:c.1584T>G XP_016864133.1:p.Phe528Leu
XM_017008645.1:c.1575T>G XP_016864134.1:p.Phe525Leu
XM_017008646.1:c.1530T>G XP_016864135.1:p.Phe510Leu
XM_017008647.1:c.1419T>G XP_016864136.1:p.Phe473Leu
XM_017008648.1:c.1419T>G XP_016864137.1:p.Phe473Leu
XM_017008649.2:c.1029T>G XP_016864138.1:p.Phe343Leu
XM_017008651.1:c.1011T>G XP_016864140.1:p.Phe337Leu