Canonical Allele Identifier: CA366711980

Gene: RNF216

Linked Data

• MyVariant Identifiers: chr7:g.5681006C>T (hg19) ; chr7:g.5641375C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5641375C>T , CM000669.2:g.5641375C>T	GRCh38
NC_000007.13:g.5681006C>T , CM000669.1:g.5681006C>T	GRCh37
NC_000007.12:g.5647532C>T	NCBI36
NG_029374.1:g.145356G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389902.8:c.2161G>A MANE Select	ENSP00000374552.3:p.Glu721Lys
ENST00000389900.8:c.*1278G>A	ENSP00000374550.4:n.*1278G>A
ENST00000389902.7:c.2161G>A	ENSP00000374552.3:p.Glu721Lys
ENST00000425013.6:c.1990G>A	ENSP00000404602.2:p.Glu664Lys
ENST00000469375.1:n.378G>A
ENST00000484458.2:n.465G>A
NM_207111.3:c.2161G>A	NP_996994.1:p.Glu721Lys
NM_207116.2:c.1990G>A	NP_996999.1:p.Glu664Lys
XM_005249785.2:c.2161G>A	XP_005249842.1:p.Glu721Lys
XM_006715748.1:c.856G>A	XP_006715811.1:p.Glu286Lys
XM_011515434.1:c.2161G>A	XP_011513736.1:p.Glu721Lys
XM_011515436.1:c.856G>A	XP_011513738.1:p.Glu286Lys
XM_011515436.2:c.856G>A	XP_011513738.1:p.Glu286Lys
XM_017012363.2:c.1990G>A	XP_016867852.1:p.Glu664Lys
XM_024446805.1:c.2161G>A	XP_024302573.1:p.Glu721Lys
XM_024446806.1:c.856G>A	XP_024302574.1:p.Glu286Lys
XM_024446807.1:c.856G>A	XP_024302575.1:p.Glu286Lys
NM_001377156.1:c.1990G>A	NP_001364085.1:p.Glu664Lys
NM_207111.4:c.2161G>A MANE Select	NP_996994.1:p.Glu721Lys
NM_207116.3:c.1990G>A	NP_996999.1:p.Glu664Lys