Canonical Allele Identifier: CA366732693

Gene: RNF216

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5741026G>A , CM000669.2:g.5741026G>A	GRCh38
NC_000007.13:g.5780657G>A , CM000669.1:g.5780657G>A	GRCh37
NC_000007.12:g.5747183G>A	NCBI36
NG_029374.1:g.45705C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_207111.4:c.991C>T MANE Select	NP_996994.1:p.Gln331Ter
ENST00000389902.8:c.991C>T MANE Select	ENSP00000374552.3:p.Gln331Ter
NM_001377156.1:c.820C>T	NP_001364085.1:p.Gln274Ter
NM_207111.3:c.991C>T	NP_996994.1:p.Gln331Ter
NM_207116.2:c.820C>T	NP_996999.1:p.Gln274Ter
NM_207116.3:c.820C>T	NP_996999.1:p.Gln274Ter
ENST00000389900.8:c.820C>T	ENSP00000374550.4:p.Gln274Ter
ENST00000389902.7:c.991C>T	ENSP00000374552.3:p.Gln331Ter
ENST00000425013.6:c.820C>T	ENSP00000404602.2:p.Gln274Ter
XM_005249785.2:c.991C>T	XP_005249842.1:p.Gln331Ter
XM_006715748.1:c.-588C>T	XP_006715811.1:n.-588C>T
XM_011515434.1:c.991C>T	XP_011513736.1:p.Gln331Ter
XM_011515435.1:c.991C>T	XP_011513737.1:p.Gln331Ter
XM_011515436.1:c.-584C>T	XP_011513738.1:n.-584C>T
XM_011515436.2:c.-584C>T	XP_011513738.1:n.-584C>T
XM_017012363.2:c.820C>T	XP_016867852.1:p.Gln274Ter
XM_017012364.2:c.991C>T	XP_016867853.1:p.Gln331Ter
XM_024446805.1:c.991C>T	XP_024302573.1:p.Gln331Ter
XM_024446806.1:c.-588C>T	XP_024302574.1:n.-588C>T
XM_024446807.1:c.-588C>T	XP_024302575.1:n.-588C>T
XR_242090.1:n.1223C>T