Canonical Allele Identifier: CA174533
Gene: COPS6 HGNC NCBI

Linked Data

ClinVar Variation Id: 161652
ClinVar RCV Id: RCV000149188
dbSNP Id: rs193921011
COSMIC: COSM1178831
MyVariant Identifiers: chr7:g.99688757A>C (hg19) chr7:g.100091134A>C (hg38)
PubMed: PMID:23265383
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100091134A>C , CM000669.2:g.100091134A>C GRCh38
NC_000007.13:g.99688757A>C , CM000669.1:g.99688757A>C GRCh37
NC_000007.12:g.99526693A>C NCBI36
NG_046973.1:g.7175A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000303904.8:c.631A>C MANE Select ENSP00000304102.3:p.Ser211Arg
ENST00000303904.7:c.631A>C ENSP00000304102.3:p.Ser211Arg
ENST00000418625.5:c.628A>C ENSP00000400617.1:p.Ser210Arg
ENST00000426712.1:c.268A>C ENSP00000413702.1:p.Ser90Arg
ENST00000468499.5:n.631A>C
ENST00000474823.5:n.438A>C
ENST00000483891.1:n.594A>C
NM_006833.4:c.631A>C NP_006824.2:p.Ser211Arg
NM_006833.5:c.631A>C MANE Select NP_006824.2:p.Ser211Arg
Search 100 bp 5'
Search 100 bp 3'