Canonical Allele Identifier: CA415843088

Gene: RERE

Linked Data

• MyVariant Identifiers: chr1:g.8418398C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8358338C>T , CM000663.2:g.8358338C>T	GRCh38
NC_000001.10:g.8418398C>T , CM000663.1:g.8418398C>T	GRCh37
NC_000001.9:g.8340985C>T	NCBI36
NG_047035.1:g.464354G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.2535G>A	ENSP00000515651.1:p.Glu845=
ENST00000400908.7:c.4197G>A MANE Select	ENSP00000383700.2:p.Glu1399=
ENST00000337907.7:c.4197G>A	ENSP00000338629.3:p.Glu1399=
ENST00000377464.5:c.3393G>A	ENSP00000366684.1:p.Glu1131=
ENST00000400907.6:c.1541-2739G>A	ENSP00000383699.2:n.1541-2739G>A
ENST00000400908.6:c.4197G>A	ENSP00000383700.2:p.Glu1399=
ENST00000476556.5:c.2535G>A	ENSP00000422246.1:p.Glu845=
ENST00000505225.1:c.308-2092G>A	ENSP00000423451.1:n.308-2092G>A
NM_001042681.1:c.4197G>A	NP_001036146.1:p.Glu1399=
NM_001042682.1:c.2535G>A	NP_001036147.1:p.Glu845=
NM_012102.3:c.4197G>A	NP_036234.3:p.Glu1399=
XM_005263464.1:c.4197G>A	XP_005263521.1:p.Glu1399=
XM_005263466.1:c.3393G>A	XP_005263523.1:p.Glu1131=
XM_006710653.1:c.4197G>A	XP_006710716.1:p.Glu1399=
XM_011541510.1:c.4071G>A	XP_011539812.1:p.Glu1357=
XM_005263464.2:c.4197G>A	XP_005263521.1:p.Glu1399=
XM_011541510.2:c.4071G>A	XP_011539812.1:p.Glu1357=
XM_017001358.1:c.4197G>A	XP_016856847.1:p.Glu1399=
XM_017001359.1:c.4197G>A	XP_016856848.1:p.Glu1399=
NM_001042681.2:c.4197G>A MANE Select	NP_001036146.1:p.Glu1399=
NM_001042682.2:c.2535G>A	NP_001036147.1:p.Glu845=
NM_012102.4:c.4197G>A	NP_036234.3:p.Glu1399=