Canonical Allele Identifier: CA16042371

Gene: RERE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8361045G>A , CM000663.2:g.8361045G>A	GRCh38
NC_000001.10:g.8421105G>A , CM000663.1:g.8421105G>A	GRCh37
NC_000001.9:g.8343692G>A	NCBI36
NG_047035.1:g.461647C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.800C>T	ENSP00000515651.1:p.Ser267Leu
ENST00000400908.7:c.2462C>T MANE Select	ENSP00000383700.2:p.Ser821Leu
ENST00000337907.7:c.2462C>T	ENSP00000338629.3:p.Ser821Leu
ENST00000377464.5:c.1658C>T	ENSP00000366684.1:p.Ser553Leu
ENST00000400907.6:c.1540+3701C>T	ENSP00000383699.2:n.1540+3701C>T
ENST00000400908.6:c.2462C>T	ENSP00000383700.2:p.Ser821Leu
ENST00000476556.5:c.800C>T	ENSP00000422246.1:p.Ser267Leu
ENST00000505225.1:c.307+415C>T	ENSP00000423451.1:n.307+415C>T
NM_001042681.1:c.2462C>T	NP_001036146.1:p.Ser821Leu
NM_001042682.1:c.800C>T	NP_001036147.1:p.Ser267Leu
NM_012102.3:c.2462C>T	NP_036234.3:p.Ser821Leu
XM_005263464.1:c.2462C>T	XP_005263521.1:p.Ser821Leu
XM_005263466.1:c.1658C>T	XP_005263523.1:p.Ser553Leu
XM_006710653.1:c.2462C>T	XP_006710716.1:p.Ser821Leu
XM_011541510.1:c.2336C>T	XP_011539812.1:p.Ser779Leu
XM_011541511.1:c.2462C>T	XP_011539813.1:p.Ser821Leu
XM_005263464.2:c.2462C>T	XP_005263521.1:p.Ser821Leu
XM_011541510.2:c.2336C>T	XP_011539812.1:p.Ser779Leu
XM_011541511.2:c.2462C>T	XP_011539813.1:p.Ser821Leu
XM_017001358.1:c.2462C>T	XP_016856847.1:p.Ser821Leu
XM_017001359.1:c.2462C>T	XP_016856848.1:p.Ser821Leu
NM_001042681.2:c.2462C>T MANE Select	NP_001036146.1:p.Ser821Leu
NM_001042682.2:c.800C>T	NP_001036147.1:p.Ser267Leu
NM_012102.4:c.2462C>T	NP_036234.3:p.Ser821Leu