Canonical Allele Identifier: CA338222467

Gene: RERE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8465987G>T , CM000663.2:g.8465987G>T	GRCh38
NC_000001.10:g.8526047G>T , CM000663.1:g.8526047G>T	GRCh37
NC_000001.9:g.8448634G>T	NCBI36
NG_047035.1:g.356705C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001042681.2:c.1141C>A MANE Select	NP_001036146.1:p.Gln381Lys
ENST00000400908.7:c.1141C>A MANE Select	ENSP00000383700.2:p.Gln381Lys
NM_001042681.1:c.1141C>A	NP_001036146.1:p.Gln381Lys
NM_012102.3:c.1141C>A	NP_036234.3:p.Gln381Lys
NM_012102.4:c.1141C>A	NP_036234.3:p.Gln381Lys
ENST00000337907.7:c.1141C>A	ENSP00000338629.3:p.Gln381Lys
ENST00000377464.5:c.337C>A	ENSP00000366684.1:p.Gln113Lys
ENST00000400907.6:c.1141C>A	ENSP00000383699.2:p.Gln381Lys
ENST00000400908.6:c.1141C>A	ENSP00000383700.2:p.Gln381Lys
ENST00000464972.5:c.187C>A	ENSP00000464712.1:p.Gln63Lys
ENST00000480342.5:n.1693C>A
ENST00000656437.1:c.1141C>A	ENSP00000499322.1:p.Gln381Lys
ENST00000659924.1:c.1141C>A	ENSP00000499704.1:p.Gln381Lys
ENST00000704049.1:c.337C>A	ENSP00000515652.1:p.Gln113Lys
XM_005263464.1:c.1141C>A	XP_005263521.1:p.Gln381Lys
XM_005263464.2:c.1141C>A	XP_005263521.1:p.Gln381Lys
XM_005263466.1:c.337C>A	XP_005263523.1:p.Gln113Lys
XM_006710653.1:c.1141C>A	XP_006710716.1:p.Gln381Lys
XM_011541510.1:c.1015C>A	XP_011539812.1:p.Gln339Lys
XM_011541510.2:c.1015C>A	XP_011539812.1:p.Gln339Lys
XM_011541511.1:c.1141C>A	XP_011539813.1:p.Gln381Lys
XM_011541511.2:c.1141C>A	XP_011539813.1:p.Gln381Lys
XM_017001358.1:c.1141C>A	XP_016856847.1:p.Gln381Lys
XM_017001359.1:c.1141C>A	XP_016856848.1:p.Gln381Lys