Canonical Allele Identifier: CA338168748

Gene: RERE

Linked Data

• ClinVar Variation Id: 562007
• ClinVar RCV Id: RCV000681471
• dbSNP Id: rs1321809020
• gnomAD v4: 1-8358216-T-C
• MyVariant Identifiers: chr1:g.8418276T>C (hg19) ; chr1:g.8358216T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8358216T>C , CM000663.2:g.8358216T>C	GRCh38
NC_000001.10:g.8418276T>C , CM000663.1:g.8418276T>C	GRCh37
NC_000001.9:g.8340863T>C	NCBI36
NG_047035.1:g.464476A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.2657A>G	ENSP00000515651.1:p.Gln886Arg
ENST00000400908.7:c.4319A>G MANE Select	ENSP00000383700.2:p.Gln1440Arg
ENST00000337907.7:c.4319A>G	ENSP00000338629.3:p.Gln1440Arg
ENST00000377464.5:c.3515A>G	ENSP00000366684.1:p.Gln1172Arg
ENST00000400907.6:c.1541-2617A>G	ENSP00000383699.2:n.1541-2617A>G
ENST00000400908.6:c.4319A>G	ENSP00000383700.2:p.Gln1440Arg
ENST00000476556.5:c.2657A>G	ENSP00000422246.1:p.Gln886Arg
ENST00000505225.1:c.308-1970A>G	ENSP00000423451.1:n.308-1970A>G
NM_001042681.1:c.4319A>G	NP_001036146.1:p.Gln1440Arg
NM_001042682.1:c.2657A>G	NP_001036147.1:p.Gln886Arg
NM_012102.3:c.4319A>G	NP_036234.3:p.Gln1440Arg
XM_005263464.1:c.4319A>G	XP_005263521.1:p.Gln1440Arg
XM_005263466.1:c.3515A>G	XP_005263523.1:p.Gln1172Arg
XM_006710653.1:c.4319A>G	XP_006710716.1:p.Gln1440Arg
XM_011541510.1:c.4193A>G	XP_011539812.1:p.Gln1398Arg
XM_005263464.2:c.4319A>G	XP_005263521.1:p.Gln1440Arg
XM_011541510.2:c.4193A>G	XP_011539812.1:p.Gln1398Arg
XM_017001358.1:c.4319A>G	XP_016856847.1:p.Gln1440Arg
XM_017001359.1:c.4319A>G	XP_016856848.1:p.Gln1440Arg
NM_001042681.2:c.4319A>G MANE Select	NP_001036146.1:p.Gln1440Arg
NM_001042682.2:c.2657A>G	NP_001036147.1:p.Gln886Arg
NM_012102.4:c.4319A>G	NP_036234.3:p.Gln1440Arg