Canonical Allele Identifier: CA338168459

Gene: RERE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8356130C>A , CM000663.2:g.8356130C>A	GRCh38
NC_000001.10:g.8416190C>A , CM000663.1:g.8416190C>A	GRCh37
NC_000001.9:g.8338777C>A	NCBI36
NG_047035.1:g.466562G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001042681.2:c.4456G>T MANE Select	NP_001036146.1:p.Glu1486Ter
ENST00000400908.7:c.4456G>T MANE Select	ENSP00000383700.2:p.Glu1486Ter
NM_001042681.1:c.4456G>T	NP_001036146.1:p.Glu1486Ter
NM_001042682.1:c.2794G>T	NP_001036147.1:p.Glu932Ter
NM_001042682.2:c.2794G>T	NP_001036147.1:p.Glu932Ter
NM_012102.3:c.4456G>T	NP_036234.3:p.Glu1486Ter
NM_012102.4:c.4456G>T	NP_036234.3:p.Glu1486Ter
ENST00000337907.7:c.4456G>T	ENSP00000338629.3:p.Glu1486Ter
ENST00000377464.5:c.3652G>T	ENSP00000366684.1:p.Glu1218Ter
ENST00000400907.6:c.1541-531G>T	ENSP00000383699.2:n.1541-531G>T
ENST00000400908.6:c.4456G>T	ENSP00000383700.2:p.Glu1486Ter
ENST00000465125.2:c.2794G>T	ENSP00000515651.1:p.Glu932Ter
ENST00000476556.5:c.2794G>T	ENSP00000422246.1:p.Glu932Ter
ENST00000505225.1:c.424G>T	ENSP00000423451.1:p.Glu142Ter
XM_005263464.1:c.4456G>T	XP_005263521.1:p.Glu1486Ter
XM_005263464.2:c.4456G>T	XP_005263521.1:p.Glu1486Ter
XM_005263466.1:c.3652G>T	XP_005263523.1:p.Glu1218Ter
XM_006710653.1:c.4456G>T	XP_006710716.1:p.Glu1486Ter
XM_011541510.1:c.4330G>T	XP_011539812.1:p.Glu1444Ter
XM_011541510.2:c.4330G>T	XP_011539812.1:p.Glu1444Ter
XM_017001358.1:c.4456G>T	XP_016856847.1:p.Glu1486Ter
XM_017001359.1:c.4456G>T	XP_016856848.1:p.Glu1486Ter