Canonical Allele Identifier: CA570798

Gene: RERE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8356173C>T , CM000663.2:g.8356173C>T	GRCh38
NC_000001.10:g.8416233C>T , CM000663.1:g.8416233C>T	GRCh37
NC_000001.9:g.8338820C>T	NCBI36
NG_047035.1:g.466519G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001042681.2:c.4413G>A MANE Select	NP_001036146.1:p.Pro1471=
ENST00000400908.7:c.4413G>A MANE Select	ENSP00000383700.2:p.Pro1471=
NM_001042681.1:c.4413G>A	NP_001036146.1:p.Pro1471=
NM_001042682.1:c.2751G>A	NP_001036147.1:p.Pro917=
NM_001042682.2:c.2751G>A	NP_001036147.1:p.Pro917=
NM_012102.3:c.4413G>A	NP_036234.3:p.Pro1471=
NM_012102.4:c.4413G>A	NP_036234.3:p.Pro1471=
ENST00000337907.7:c.4413G>A	ENSP00000338629.3:p.Pro1471=
ENST00000377464.5:c.3609G>A	ENSP00000366684.1:p.Pro1203=
ENST00000400907.6:c.1541-574G>A	ENSP00000383699.2:n.1541-574G>A
ENST00000400908.6:c.4413G>A	ENSP00000383700.2:p.Pro1471=
ENST00000465125.2:c.2751G>A	ENSP00000515651.1:p.Pro917=
ENST00000476556.5:c.2751G>A	ENSP00000422246.1:p.Pro917=
ENST00000505225.1:c.381G>A	ENSP00000423451.1:p.Pro127=
XM_005263464.1:c.4413G>A	XP_005263521.1:p.Pro1471=
XM_005263464.2:c.4413G>A	XP_005263521.1:p.Pro1471=
XM_005263466.1:c.3609G>A	XP_005263523.1:p.Pro1203=
XM_006710653.1:c.4413G>A	XP_006710716.1:p.Pro1471=
XM_011541510.1:c.4287G>A	XP_011539812.1:p.Pro1429=
XM_011541510.2:c.4287G>A	XP_011539812.1:p.Pro1429=
XM_017001358.1:c.4413G>A	XP_016856847.1:p.Pro1471=
XM_017001359.1:c.4413G>A	XP_016856848.1:p.Pro1471=