Canonical Allele Identifier: CA371111166

Gene: RNF170

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42856296T>G , CM000670.2:g.42856296T>G	GRCh38
NC_000008.10:g.42711439T>G , CM000670.1:g.42711439T>G	GRCh37
NC_000008.9:g.42830596T>G	NCBI36
NG_032868.1:g.45428A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527424.6:c.640A>C MANE Select	ENSP00000434797.1:p.Ile214Leu
ENST00000240159.8:c.*215A>C	ENSP00000240159.4:n.*215A>C
ENST00000319073.5:c.*215A>C	ENSP00000325969.5:n.*215A>C
ENST00000319104.7:c.397-5299A>C	ENSP00000326138.3:n.397-5299A>C
ENST00000526349.5:c.388A>C	ENSP00000435782.1:p.Ile130Leu
ENST00000527424.5:c.640A>C	ENSP00000434797.1:p.Ile214Leu
ENST00000534961.5:c.640A>C	ENSP00000445725.1:p.Ile214Leu
NM_001160223.1:c.640A>C	NP_001153695.1:p.Ile214Leu
NM_001160224.1:c.397-5299A>C	NP_001153696.1:n.397-5299A>C
NM_001160225.1:c.388A>C	NP_001153697.1:p.Ile130Leu
NM_030954.3:c.640A>C	NP_112216.3:p.Ile214Leu
NR_027668.1:n.1043A>C
NR_027669.1:n.813A>C
XM_006716404.1:c.640A>C	XP_006716467.1:p.Ile214Leu
XM_006716405.1:c.490A>C	XP_006716468.1:p.Ile164Leu
XM_006716406.2:c.388A>C	XP_006716469.1:p.Ile130Leu
XM_011544666.1:c.640A>C	XP_011542968.1:p.Ile214Leu
XM_006716404.2:c.640A>C	XP_006716467.1:p.Ile214Leu
XM_006716405.3:c.490A>C	XP_006716468.1:p.Ile164Leu
XM_011544666.3:c.640A>C	XP_011542968.1:p.Ile214Leu
XM_017013881.1:c.640A>C	XP_016869370.1:p.Ile214Leu
XM_017013882.2:c.388A>C	XP_016869371.1:p.Ile130Leu
XR_001745604.2:n.964A>C
XR_001745605.1:n.622A>C
XR_001745606.1:n.654A>C
XR_002956648.1:n.1126A>C
XR_002956649.1:n.884A>C
NM_030954.4:c.640A>C MANE Select	NP_112216.3:p.Ile214Leu
NM_001160224.2:c.397-5299A>C	NP_001153696.1:n.397-5299A>C
NM_001160225.2:c.388A>C	NP_001153697.1:p.Ile130Leu
NR_027668.2:n.925A>C
NR_027669.2:n.695A>C
NM_001160223.2:c.640A>C	NP_001153695.1:p.Ile214Leu