Canonical Allele Identifier: CA571121

Gene: RERE

Linked Data

• dbSNP Id: rs750425197
• ExAC: 1:8419897 C / T
• gnomAD v2: 1-8419897-C-T
• gnomAD v4: 1-8359837-C-T
• MyVariant Identifiers: chr1:g.8419897C>T (hg19) ; chr1:g.8359837C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359837C>T , CM000663.2:g.8359837C>T	GRCh38
NC_000001.10:g.8419897C>T , CM000663.1:g.8419897C>T	GRCh37
NC_000001.9:g.8342484C>T	NCBI36
NG_047035.1:g.462855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1883G>A	ENSP00000515651.1:p.Arg628Gln
ENST00000400908.7:c.3545G>A MANE Select	ENSP00000383700.2:p.Arg1182Gln
ENST00000337907.7:c.3545G>A	ENSP00000338629.3:p.Arg1182Gln
ENST00000377464.5:c.2741G>A	ENSP00000366684.1:p.Arg914Gln
ENST00000400907.6:c.1541-4238G>A	ENSP00000383699.2:n.1541-4238G>A
ENST00000400908.6:c.3545G>A	ENSP00000383700.2:p.Arg1182Gln
ENST00000476556.5:c.1883G>A	ENSP00000422246.1:p.Arg628Gln
ENST00000505225.1:c.307+1623G>A	ENSP00000423451.1:n.307+1623G>A
NM_001042681.1:c.3545G>A	NP_001036146.1:p.Arg1182Gln
NM_001042682.1:c.1883G>A	NP_001036147.1:p.Arg628Gln
NM_012102.3:c.3545G>A	NP_036234.3:p.Arg1182Gln
XM_005263464.1:c.3545G>A	XP_005263521.1:p.Arg1182Gln
XM_005263466.1:c.2741G>A	XP_005263523.1:p.Arg914Gln
XM_006710653.1:c.3545G>A	XP_006710716.1:p.Arg1182Gln
XM_011541510.1:c.3419G>A	XP_011539812.1:p.Arg1140Gln
XM_011541511.1:c.3395+275G>A	XP_011539813.1:n.3395+275G>A
XM_005263464.2:c.3545G>A	XP_005263521.1:p.Arg1182Gln
XM_011541510.2:c.3419G>A	XP_011539812.1:p.Arg1140Gln
XM_011541511.2:c.3395+275G>A	XP_011539813.1:n.3395+275G>A
XM_017001358.1:c.3545G>A	XP_016856847.1:p.Arg1182Gln
XM_017001359.1:c.3545G>A	XP_016856848.1:p.Arg1182Gln
NM_001042681.2:c.3545G>A MANE Select	NP_001036146.1:p.Arg1182Gln
NM_001042682.2:c.1883G>A	NP_001036147.1:p.Arg628Gln
NM_012102.4:c.3545G>A	NP_036234.3:p.Arg1182Gln