Canonical Allele Identifier: CA1485956472

Gene: ALPK1

Linked Data

• dbSNP Id: rs231253
• gnomAD v4: 4-112441466-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.112441466C>A , CM000666.2:g.112441466C>A	GRCh38
NC_000004.11:g.113362622C>A , CM000666.1:g.113362622C>A	GRCh37
NC_000004.10:g.113582071C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000458497.6:c.*256C>A	ENSP00000398048.1:n.*256C>A
ENST00000650871.1:c.*256C>A MANE Select	ENSP00000498374.1:n.*256C>A
ENST00000177648.13:c.*256C>A	ENSP00000177648.9:n.*256C>A
ENST00000458497.5:c.*256C>A	ENSP00000398048.1:n.*256C>A
ENST00000504176.6:c.*256C>A	ENSP00000426044.2:n.*256C>A
ENST00000504745.1:n.4479C>A
ENST00000505127.5:c.*942C>A	ENSP00000425559.1:n.*942C>A
NM_001102406.1:c.*256C>A	NP_001095876.1:n.*256C>A
NM_001253884.1:c.*256C>A	NP_001240813.1:n.*256C>A
NM_025144.3:c.*256C>A	NP_079420.3:n.*256C>A
XM_005263245.3:c.*350C>A	XP_005263302.1:n.*350C>A
XM_005263246.3:c.*350C>A	XP_005263303.1:n.*350C>A
XM_005263247.3:c.*350C>A	XP_005263304.1:n.*350C>A
XM_005263248.3:c.*350C>A	XP_005263305.1:n.*350C>A
XM_006714326.2:c.*350C>A	XP_006714389.1:n.*350C>A
XM_011532280.1:c.*350C>A	XP_011530582.1:n.*350C>A
XM_011532281.1:c.*350C>A	XP_011530583.1:n.*350C>A
XM_011532282.1:c.*350C>A	XP_011530584.1:n.*350C>A
XM_011532283.1:c.*350C>A	XP_011530585.1:n.*350C>A
XM_005263245.4:c.*350C>A	XP_005263302.1:n.*350C>A
XM_005263246.4:c.*350C>A	XP_005263303.1:n.*350C>A
XM_006714326.3:c.*350C>A	XP_006714389.1:n.*350C>A
XM_017008633.1:c.*350C>A	XP_016864122.1:n.*350C>A
XM_017008634.1:c.*350C>A	XP_016864123.1:n.*350C>A
XM_017008635.1:c.*350C>A	XP_016864124.1:n.*350C>A
XM_017008636.1:c.*350C>A	XP_016864125.1:n.*350C>A
XM_017008637.1:c.*350C>A	XP_016864126.1:n.*350C>A
XM_017008638.2:c.*350C>A	XP_016864127.1:n.*350C>A
XM_017008639.1:c.*350C>A	XP_016864128.1:n.*350C>A
XM_017008640.1:c.*350C>A	XP_016864129.1:n.*350C>A
XM_017008641.2:c.*350C>A	XP_016864130.1:n.*350C>A
XM_017008642.1:c.*256C>A	XP_016864131.1:n.*256C>A
XM_017008643.1:c.*350C>A	XP_016864132.1:n.*350C>A
XM_017008644.1:c.*350C>A	XP_016864133.1:n.*350C>A
XM_017008645.1:c.*256C>A	XP_016864134.1:n.*256C>A
XM_017008646.1:c.*350C>A	XP_016864135.1:n.*350C>A
XM_017008647.1:c.*350C>A	XP_016864136.1:n.*350C>A
XM_017008648.1:c.*350C>A	XP_016864137.1:n.*350C>A
XM_017008649.2:c.*350C>A	XP_016864138.1:n.*350C>A
XM_017008651.1:c.*350C>A	XP_016864140.1:n.*350C>A
NM_025144.4:c.*256C>A MANE Select	NP_079420.3:n.*256C>A
NM_001102406.2:c.*256C>A	NP_001095876.1:n.*256C>A
NM_001253884.2:c.*256C>A	NP_001240813.1:n.*256C>A