Canonical Allele Identifier: CA570873

Gene: RERE

Linked Data

• ClinVar Variation Id: 1693313
• ClinVar RCV Id: RCV002260724
• dbSNP Id: rs765164005
• ExAC: 1:8418400 C / G
• gnomAD v2: 1-8418400-C-G
• gnomAD v3: 1-8358340-C-G
• gnomAD v4: 1-8358340-C-G
• MyVariant Identifiers: chr1:g.8418400C>G (hg19) ; chr1:g.8358340C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8358340C>G , CM000663.2:g.8358340C>G	GRCh38
NC_000001.10:g.8418400C>G , CM000663.1:g.8418400C>G	GRCh37
NC_000001.9:g.8340987C>G	NCBI36
NG_047035.1:g.464352G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.2533G>C	ENSP00000515651.1:p.Glu845Gln
ENST00000400908.7:c.4195G>C MANE Select	ENSP00000383700.2:p.Glu1399Gln
ENST00000337907.7:c.4195G>C	ENSP00000338629.3:p.Glu1399Gln
ENST00000377464.5:c.3391G>C	ENSP00000366684.1:p.Glu1131Gln
ENST00000400907.6:c.1541-2741G>C	ENSP00000383699.2:n.1541-2741G>C
ENST00000400908.6:c.4195G>C	ENSP00000383700.2:p.Glu1399Gln
ENST00000476556.5:c.2533G>C	ENSP00000422246.1:p.Glu845Gln
ENST00000505225.1:c.308-2094G>C	ENSP00000423451.1:n.308-2094G>C
NM_001042681.1:c.4195G>C	NP_001036146.1:p.Glu1399Gln
NM_001042682.1:c.2533G>C	NP_001036147.1:p.Glu845Gln
NM_012102.3:c.4195G>C	NP_036234.3:p.Glu1399Gln
XM_005263464.1:c.4195G>C	XP_005263521.1:p.Glu1399Gln
XM_005263466.1:c.3391G>C	XP_005263523.1:p.Glu1131Gln
XM_006710653.1:c.4195G>C	XP_006710716.1:p.Glu1399Gln
XM_011541510.1:c.4069G>C	XP_011539812.1:p.Glu1357Gln
XM_005263464.2:c.4195G>C	XP_005263521.1:p.Glu1399Gln
XM_011541510.2:c.4069G>C	XP_011539812.1:p.Glu1357Gln
XM_017001358.1:c.4195G>C	XP_016856847.1:p.Glu1399Gln
XM_017001359.1:c.4195G>C	XP_016856848.1:p.Glu1399Gln
NM_001042681.2:c.4195G>C MANE Select	NP_001036146.1:p.Glu1399Gln
NM_001042682.2:c.2533G>C	NP_001036147.1:p.Glu845Gln
NM_012102.4:c.4195G>C	NP_036234.3:p.Glu1399Gln