Canonical Allele Identifier: CA6355201

Gene: DCPS GSEC

Linked Data

• ClinVar Variation Id: 372235
• ClinVar RCV Id: RCV000412619
• dbSNP Id: rs137941190
• ExAC: 11:126215441 C / T
• gnomAD v2: 11-126215441-C-T
• gnomAD v3: 11-126345546-C-T
• gnomAD v4: 11-126345546-C-T
• MyVariant Identifiers: chr11:g.126215441C>T (hg19) ; chr11:g.126345546C>T (hg38)
• PubMed: PMID:25701870

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.126345546C>T , CM000673.2:g.126345546C>T	GRCh38
NC_000011.9:g.126215441C>T , CM000673.1:g.126215441C>T	GRCh37
NC_000011.8:g.125720651C>T	NCBI36
NG_053153.1:g.47246C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263579.5:c.947C>T (DCPS) MANE Select	ENSP00000263579.4:p.Thr316Met
ENST00000648516.1:c.668C>T (DCPS)	ENSP00000497684.1:p.Thr223Met
ENST00000263579.4:c.947C>T (DCPS)	ENSP00000263579.4:p.Thr316Met
ENST00000529149.1:n.2297C>T (DCPS)
ENST00000530860.5:n.458C>T (DCPS)
NM_014026.4:c.947C>T (DCPS)	NP_054745.1:p.Thr316Met
NR_033839.1:n.147-3224G>A (GSEC)
XM_011542778.1:c.968C>T (DCPS)	XP_011541080.1:p.Thr323Met
XM_011542779.1:c.668C>T (DCPS)	XP_011541081.1:p.Thr223Met
XM_011542780.1:c.668C>T (DCPS)	XP_011541082.1:p.Thr223Met
NM_001350236.1:c.968C>T (DCPS)	NP_001337165.1:p.Thr323Met
NM_014026.5:c.947C>T (DCPS)	NP_054745.1:p.Thr316Met
NM_014026.6:c.947C>T (DCPS) MANE Select	NP_054745.1:p.Thr316Met
NM_001350236.2:c.968C>T (DCPS)	NP_001337165.1:p.Thr323Met