Canonical Allele Identifier: CA3282126

Gene: CWC27

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.64804388T>C , CM000667.2:g.64804388T>C	GRCh38
NC_000005.9:g.64100215T>C , CM000667.1:g.64100215T>C	GRCh37
NC_000005.8:g.64135971T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005869.4:c.938+2T>C MANE Select	NP_005860.2:n.938+2T>C
ENST00000381070.8:c.938+2T>C MANE Select	ENSP00000370460.2:n.938+2T>C
NM_001297644.1:c.938+2T>C	NP_001284573.1:n.938+2T>C
NM_001297645.1:c.938+2T>C	NP_001284574.1:n.938+2T>C
NM_001297645.2:c.938+2T>C	NP_001284574.1:n.938+2T>C
NM_001318000.1:c.938+2T>C	NP_001304929.1:n.938+2T>C
NM_001318000.2:c.938+2T>C	NP_001304929.1:n.938+2T>C
NM_001364478.1:c.938+2T>C	NP_001351407.1:n.938+2T>C
NM_005869.3:c.938+2T>C	NP_005860.2:n.938+2T>C
ENST00000381070.7:c.938+2T>C	ENSP00000370460.2:n.938+2T>C
ENST00000506168.1:n.274T>C
ENST00000506168.2:c.445T>C	ENSP00000510592.1:p.Ter149Arg
ENST00000508024.1:c.938+2T>C	ENSP00000426802.1:n.938+2T>C
ENST00000508024.2:c.938+2T>C	ENSP00000426802.1:n.938+2T>C
ENST00000607786.2:c.638+2T>C	ENSP00000509647.1:n.638+2T>C
ENST00000685023.1:c.938+2T>C	ENSP00000508985.1:n.938+2T>C
ENST00000686041.1:n.3994+2T>C
ENST00000687314.1:c.938+2T>C	ENSP00000510578.1:n.938+2T>C
ENST00000688107.1:c.938+2T>C	ENSP00000510268.1:n.938+2T>C
ENST00000688318.1:c.938+2T>C	ENSP00000508653.1:n.938+2T>C
ENST00000688896.1:c.938+2T>C	ENSP00000510604.1:n.938+2T>C
ENST00000689534.1:n.1139+2T>C
ENST00000689574.1:c.938+2T>C	ENSP00000510176.1:n.938+2T>C
ENST00000691921.1:c.938+2T>C	ENSP00000509657.1:n.938+2T>C
ENST00000692005.1:c.839+2T>C	ENSP00000509199.1:n.839+2T>C
ENST00000692572.1:n.52+2T>C
ENST00000692660.1:c.938+2T>C	ENSP00000510173.1:n.938+2T>C
ENST00000692763.1:c.938+2T>C	ENSP00000510726.1:n.938+2T>C
ENST00000693121.1:n.4035+2T>C
ENST00000693303.1:c.938+2T>C	ENSP00000508557.1:n.938+2T>C
ENST00000693640.1:c.938+2T>C	ENSP00000509061.1:n.938+2T>C
ENST00000693660.1:c.839+2T>C	ENSP00000509052.1:n.839+2T>C
XM_006714518.1:c.938+2T>C	XP_006714581.1:n.938+2T>C
XM_011543095.1:c.938+2T>C	XP_011541397.1:n.938+2T>C
XM_011543095.3:c.938+2T>C	XP_011541397.2:n.938+2T>C
XM_011543096.1:c.938+2T>C	XP_011541398.1:n.938+2T>C
XM_011543096.2:c.938+2T>C	XP_011541398.1:n.938+2T>C
XM_011543097.1:c.938+2T>C	XP_011541399.1:n.938+2T>C