Canonical Allele Identifier: CA1490261

Gene: CNST

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.246647799A>G , CM000663.2:g.246647799A>G	GRCh38
NC_000001.10:g.246811101A>G , CM000663.1:g.246811101A>G	GRCh37
NC_000001.9:g.244877724A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_152609.3:c.1598A>G MANE Select	NP_689822.2:p.Lys533Arg
ENST00000366513.9:c.1598A>G MANE Select	ENSP00000355470.4:p.Lys533Arg
NM_001139459.1:c.1598A>G	NP_001132931.1:p.Lys533Arg
NM_001139459.2:c.1598A>G	NP_001132931.1:p.Lys533Arg
NM_152609.2:c.1598A>G	NP_689822.2:p.Lys533Arg
ENST00000366512.7:c.1598A>G	ENSP00000355469.3:p.Lys533Arg
ENST00000366513.8:c.1598A>G	ENSP00000355470.4:p.Lys533Arg
ENST00000483271.1:n.2331A>G
XM_005273081.3:c.1598A>G	XP_005273138.2:p.Lys533Arg
XM_005273083.3:c.1103A>G	XP_005273140.1:p.Lys368Arg
XM_005273083.5:c.1103A>G	XP_005273140.1:p.Lys368Arg
XM_006711751.2:c.1232A>G	XP_006711814.1:p.Lys411Arg
XM_011544110.1:c.1598A>G	XP_011542412.1:p.Lys533Arg
XM_011544110.3:c.1598A>G	XP_011542412.1:p.Lys533Arg
XM_011544111.1:c.1598A>G	XP_011542413.1:p.Lys533Arg
XM_011544112.1:c.1190A>G	XP_011542414.1:p.Lys397Arg
XM_011544113.1:c.1103A>G	XP_011542415.1:p.Lys368Arg
XM_011544113.2:c.1103A>G	XP_011542415.1:p.Lys368Arg
XM_011544114.1:c.1076A>G	XP_011542416.1:p.Lys359Arg
XM_011544114.2:c.1076A>G	XP_011542416.1:p.Lys359Arg
XM_017000487.1:c.1232A>G	XP_016855976.1:p.Lys411Arg
XM_017000488.1:c.1076A>G	XP_016855977.1:p.Lys359Arg
XM_017000489.2:c.1076A>G	XP_016855978.1:p.Lys359Arg
XM_024453697.1:c.971A>G	XP_024309465.1:p.Lys324Arg