Canonical Allele Identifier: CA338172916

Gene: RERE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8361229G>A , CM000663.2:g.8361229G>A	GRCh38
NC_000001.10:g.8421289G>A , CM000663.1:g.8421289G>A	GRCh37
NC_000001.9:g.8343876G>A	NCBI36
NG_047035.1:g.461463C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001042681.2:c.2278C>T MANE Select	NP_001036146.1:p.Gln760Ter
ENST00000400908.7:c.2278C>T MANE Select	ENSP00000383700.2:p.Gln760Ter
NM_001042681.1:c.2278C>T	NP_001036146.1:p.Gln760Ter
NM_001042682.1:c.616C>T	NP_001036147.1:p.Gln206Ter
NM_001042682.2:c.616C>T	NP_001036147.1:p.Gln206Ter
NM_012102.3:c.2278C>T	NP_036234.3:p.Gln760Ter
NM_012102.4:c.2278C>T	NP_036234.3:p.Gln760Ter
ENST00000337907.7:c.2278C>T	ENSP00000338629.3:p.Gln760Ter
ENST00000377464.5:c.1474C>T	ENSP00000366684.1:p.Gln492Ter
ENST00000400907.6:c.1540+3517C>T	ENSP00000383699.2:n.1540+3517C>T
ENST00000400908.6:c.2278C>T	ENSP00000383700.2:p.Gln760Ter
ENST00000465125.2:c.616C>T	ENSP00000515651.1:p.Gln206Ter
ENST00000476556.5:c.616C>T	ENSP00000422246.1:p.Gln206Ter
ENST00000505225.1:c.307+231C>T	ENSP00000423451.1:n.307+231C>T
ENST00000656437.1:c.2278C>T	ENSP00000499322.1:p.Gln760Ter
XM_005263464.1:c.2278C>T	XP_005263521.1:p.Gln760Ter
XM_005263464.2:c.2278C>T	XP_005263521.1:p.Gln760Ter
XM_005263466.1:c.1474C>T	XP_005263523.1:p.Gln492Ter
XM_006710653.1:c.2278C>T	XP_006710716.1:p.Gln760Ter
XM_011541510.1:c.2152C>T	XP_011539812.1:p.Gln718Ter
XM_011541510.2:c.2152C>T	XP_011539812.1:p.Gln718Ter
XM_011541511.1:c.2278C>T	XP_011539813.1:p.Gln760Ter
XM_011541511.2:c.2278C>T	XP_011539813.1:p.Gln760Ter
XM_017001358.1:c.2278C>T	XP_016856847.1:p.Gln760Ter
XM_017001359.1:c.2278C>T	XP_016856848.1:p.Gln760Ter