Canonical Allele Identifier: CA383221256

Gene: DCPS GSEC

Linked Data

• dbSNP Id: rs769876473
• gnomAD v4: 11-126345525-C-G
• MyVariant Identifiers: chr11:g.126215420C>G (hg19) ; chr11:g.126345525C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.126345525C>G , CM000673.2:g.126345525C>G	GRCh38
NC_000011.9:g.126215420C>G , CM000673.1:g.126215420C>G	GRCh37
NC_000011.8:g.125720630C>G	NCBI36
NG_053153.1:g.47225C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263579.5:c.926C>G (DCPS) MANE Select	ENSP00000263579.4:p.Pro309Arg
ENST00000648516.1:c.647C>G (DCPS)	ENSP00000497684.1:p.Pro216Arg
ENST00000263579.4:c.926C>G (DCPS)	ENSP00000263579.4:p.Pro309Arg
ENST00000529149.1:n.2276C>G (DCPS)
ENST00000530860.5:n.437C>G (DCPS)
NM_014026.4:c.926C>G (DCPS)	NP_054745.1:p.Pro309Arg
NR_033839.1:n.147-3203G>C (GSEC)
XM_011542778.1:c.947C>G (DCPS)	XP_011541080.1:p.Pro316Arg
XM_011542779.1:c.647C>G (DCPS)	XP_011541081.1:p.Pro216Arg
XM_011542780.1:c.647C>G (DCPS)	XP_011541082.1:p.Pro216Arg
NM_001350236.1:c.947C>G (DCPS)	NP_001337165.1:p.Pro316Arg
NM_014026.5:c.926C>G (DCPS)	NP_054745.1:p.Pro309Arg
NM_014026.6:c.926C>G (DCPS) MANE Select	NP_054745.1:p.Pro309Arg
NM_001350236.2:c.947C>G (DCPS)	NP_001337165.1:p.Pro316Arg