Canonical Allele Identifier: CA383221235

Gene: DCPS GSEC

Linked Data

• ClinVar Variation Id: 870490
• ClinVar RCV Id: RCV001090050
• dbSNP Id: rs1215363009
• gnomAD v4: 11-126345517-G-C
• MyVariant Identifiers: chr11:g.126215412G>C (hg19) ; chr11:g.126345517G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.126345517G>C , CM000673.2:g.126345517G>C	GRCh38
NC_000011.9:g.126215412G>C , CM000673.1:g.126215412G>C	GRCh37
NC_000011.8:g.125720622G>C	NCBI36
NG_053153.1:g.47217G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263579.5:c.918G>C (DCPS) MANE Select	ENSP00000263579.4:p.Glu306Asp
ENST00000648516.1:c.639G>C (DCPS)	ENSP00000497684.1:p.Glu213Asp
ENST00000263579.4:c.918G>C (DCPS)	ENSP00000263579.4:p.Glu306Asp
ENST00000529149.1:n.2268G>C (DCPS)
ENST00000530860.5:n.429G>C (DCPS)
NM_014026.4:c.918G>C (DCPS)	NP_054745.1:p.Glu306Asp
NR_033839.1:n.147-3195C>G (GSEC)
XM_011542778.1:c.939G>C (DCPS)	XP_011541080.1:p.Glu313Asp
XM_011542779.1:c.639G>C (DCPS)	XP_011541081.1:p.Glu213Asp
XM_011542780.1:c.639G>C (DCPS)	XP_011541082.1:p.Glu213Asp
NM_001350236.1:c.939G>C (DCPS)	NP_001337165.1:p.Glu313Asp
NM_014026.5:c.918G>C (DCPS)	NP_054745.1:p.Glu306Asp
NM_014026.6:c.918G>C (DCPS) MANE Select	NP_054745.1:p.Glu306Asp
NM_001350236.2:c.939G>C (DCPS)	NP_001337165.1:p.Glu313Asp