Canonical Allele Identifier: CA223586

Gene: SELENON

Linked Data

• ClinVar Variation Id: 95961
• ClinVar RCV Id: RCV000542565 ; RCV000723596 ; RCV001097379 ; RCV001329142 ; RCV003398681
• dbSNP Id: rs200128474
• ExAC: 1:26142090 G / A
• gnomAD v2: 1-26142090-G-A
• gnomAD v3: 1-25815599-G-A
• gnomAD v4: 1-25815599-G-A
• COSMIC: COSM4143698
• MyVariant Identifiers: chr1:g.26142090G>A (hg19) ; chr1:g.25815599G>A (hg38)
• PubMed: PMID:20623375

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25815599G>A , CM000663.2:g.25815599G>A	GRCh38
NC_000001.10:g.26142090G>A , CM000663.1:g.26142090G>A	GRCh37
NC_000001.9:g.26014677G>A	NCBI36
NG_009930.1:g.20424G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354177.9:c.1483G>A	ENSP00000346109.5:p.Glu495Lys
ENST00000494537.2:c.1641G>A	ENSP00000508308.1:n.1641G>A
ENST00000361547.7:c.1654G>A MANE Select	ENSP00000355141.2:p.Glu552Lys
ENST00000354177.8:c.1552G>A	ENSP00000346109.4:p.Glu518Lys
ENST00000361547.6:c.1654G>A	ENSP00000355141.2:p.Glu552Lys
ENST00000374315.1:c.1552G>A	ENSP00000363434.1:p.Glu518Lys
ENST00000494537.1:n.421G>A
ENST00000527604.1:c.123+1421G>A	ENSP00000457066.1:n.123+1421G>A
ENST00000559265.1:n.255+3720G>A
ENST00000630065.2:c.82G>A	ENSP00000487549.1:p.Glu28Lys
NM_020451.2:c.1654G>A	NP_065184.2:p.Glu552Lys
NM_206926.1:c.1552G>A	NP_996809.1:p.Glu518Lys
NM_020451.3:c.1654G>A MANE Select	NP_065184.2:p.Glu552Lys
NM_206926.2:c.1552G>A	NP_996809.1:p.Glu518Lys