Canonical Allele Identifier: CA570863

Gene: RERE

Linked Data

• dbSNP Id: rs749613462
• ExAC: 1:8418359 A / T
• gnomAD v2: 1-8418359-A-T
• MyVariant Identifiers: chr1:g.8418359A>T (hg19) ; chr1:g.8358299A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8358299A>T , CM000663.2:g.8358299A>T	GRCh38
NC_000001.10:g.8418359A>T , CM000663.1:g.8418359A>T	GRCh37
NC_000001.9:g.8340946A>T	NCBI36
NG_047035.1:g.464393T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.2574T>A	ENSP00000515651.1:p.Asp858Glu
ENST00000400908.7:c.4236T>A MANE Select	ENSP00000383700.2:p.Asp1412Glu
ENST00000337907.7:c.4236T>A	ENSP00000338629.3:p.Asp1412Glu
ENST00000377464.5:c.3432T>A	ENSP00000366684.1:p.Asp1144Glu
ENST00000400907.6:c.1541-2700T>A	ENSP00000383699.2:n.1541-2700T>A
ENST00000400908.6:c.4236T>A	ENSP00000383700.2:p.Asp1412Glu
ENST00000476556.5:c.2574T>A	ENSP00000422246.1:p.Asp858Glu
ENST00000505225.1:c.308-2053T>A	ENSP00000423451.1:n.308-2053T>A
NM_001042681.1:c.4236T>A	NP_001036146.1:p.Asp1412Glu
NM_001042682.1:c.2574T>A	NP_001036147.1:p.Asp858Glu
NM_012102.3:c.4236T>A	NP_036234.3:p.Asp1412Glu
XM_005263464.1:c.4236T>A	XP_005263521.1:p.Asp1412Glu
XM_005263466.1:c.3432T>A	XP_005263523.1:p.Asp1144Glu
XM_006710653.1:c.4236T>A	XP_006710716.1:p.Asp1412Glu
XM_011541510.1:c.4110T>A	XP_011539812.1:p.Asp1370Glu
XM_005263464.2:c.4236T>A	XP_005263521.1:p.Asp1412Glu
XM_011541510.2:c.4110T>A	XP_011539812.1:p.Asp1370Glu
XM_017001358.1:c.4236T>A	XP_016856847.1:p.Asp1412Glu
XM_017001359.1:c.4236T>A	XP_016856848.1:p.Asp1412Glu
NM_001042681.2:c.4236T>A MANE Select	NP_001036146.1:p.Asp1412Glu
NM_001042682.2:c.2574T>A	NP_001036147.1:p.Asp858Glu
NM_012102.4:c.4236T>A	NP_036234.3:p.Asp1412Glu