Canonical Allele Identifier: CA357922

Gene: RERE

Linked Data

• ClinVar Variation Id: 224822
• ClinVar RCV Id: RCV000210403 ; RCV000225351 ; RCV000522084 ; RCV001265937
• dbSNP Id: rs869312871
• MyVariant Identifiers: chr1:g.8418302G>T (hg19) ; chr1:g.8358242G>T (hg38)
• PubMed: PMID:26350515 ; PMID:27087320

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8358242G>T , CM000663.2:g.8358242G>T	GRCh38
NC_000001.10:g.8418302G>T , CM000663.1:g.8418302G>T	GRCh37
NC_000001.9:g.8340889G>T	NCBI36
NG_047035.1:g.464450C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465125.2:c.2631C>A	ENSP00000515651.1:p.His877Gln
ENST00000400908.7:c.4293C>A MANE Select	ENSP00000383700.2:p.His1431Gln
ENST00000337907.7:c.4293C>A	ENSP00000338629.3:p.His1431Gln
ENST00000377464.5:c.3489C>A	ENSP00000366684.1:p.His1163Gln
ENST00000400907.6:c.1541-2643C>A	ENSP00000383699.2:n.1541-2643C>A
ENST00000400908.6:c.4293C>A	ENSP00000383700.2:p.His1431Gln
ENST00000476556.5:c.2631C>A	ENSP00000422246.1:p.His877Gln
ENST00000505225.1:c.308-1996C>A	ENSP00000423451.1:n.308-1996C>A
NM_001042681.1:c.4293C>A	NP_001036146.1:p.His1431Gln
NM_001042682.1:c.2631C>A	NP_001036147.1:p.His877Gln
NM_012102.3:c.4293C>A	NP_036234.3:p.His1431Gln
XM_005263464.1:c.4293C>A	XP_005263521.1:p.His1431Gln
XM_005263466.1:c.3489C>A	XP_005263523.1:p.His1163Gln
XM_006710653.1:c.4293C>A	XP_006710716.1:p.His1431Gln
XM_011541510.1:c.4167C>A	XP_011539812.1:p.His1389Gln
XM_005263464.2:c.4293C>A	XP_005263521.1:p.His1431Gln
XM_011541510.2:c.4167C>A	XP_011539812.1:p.His1389Gln
XM_017001358.1:c.4293C>A	XP_016856847.1:p.His1431Gln
XM_017001359.1:c.4293C>A	XP_016856848.1:p.His1431Gln
NM_001042681.2:c.4293C>A MANE Select	NP_001036146.1:p.His1431Gln
NM_001042682.2:c.2631C>A	NP_001036147.1:p.His877Gln
NM_012102.4:c.4293C>A	NP_036234.3:p.His1431Gln