Canonical Allele Identifier: CA349721207

Gene: CWC22

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.179945671C>T , CM000664.2:g.179945671C>T	GRCh38
NC_000002.11:g.180810398C>T , CM000664.1:g.180810398C>T	GRCh37
NC_000002.10:g.180518643C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_020943.3:c.2185G>A MANE Select	NP_065994.1:p.Glu729Lys
ENST00000410053.8:c.2185G>A MANE Select	ENSP00000387006.3:p.Glu729Lys
NM_001376029.1:c.2185G>A	NP_001362958.1:p.Glu729Lys
NM_001376030.1:c.2185G>A	NP_001362959.1:p.Glu729Lys
NM_001376032.1:c.2062G>A	NP_001362961.1:p.Glu688Lys
NM_001376033.1:c.*41G>A	NP_001362962.1:n.*41G>A
NM_020943.2:c.2185G>A	NP_065994.1:p.Glu729Lys
ENST00000404136.2:c.2185G>A	ENSP00000384159.2:p.Glu729Lys
ENST00000410053.7:c.2185G>A	ENSP00000387006.3:p.Glu729Lys
XM_005246726.1:c.2185G>A	XP_005246783.1:p.Glu729Lys
XM_005246726.3:c.2185G>A	XP_005246783.1:p.Glu729Lys