Canonical Allele Identifier: CA570738

Gene: RERE

Linked Data

• dbSNP Id: rs768647692
• ExAC: 1:8415559 T / C
• gnomAD v2: 1-8415559-T-C
• gnomAD v3: 1-8355499-T-C
• gnomAD v4: 1-8355499-T-C
• MyVariant Identifiers: chr1:g.8415559T>C (hg19) ; chr1:g.8355499T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8355499T>C , CM000663.2:g.8355499T>C	GRCh38
NC_000001.10:g.8415559T>C , CM000663.1:g.8415559T>C	GRCh37
NC_000001.9:g.8338146T>C	NCBI36
NG_047035.1:g.467193A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.2925A>G	ENSP00000515651.1:p.Arg975=
ENST00000400908.7:c.4587A>G MANE Select	ENSP00000383700.2:p.Arg1529=
ENST00000337907.7:c.4587A>G	ENSP00000338629.3:p.Arg1529=
ENST00000377464.5:c.3783A>G	ENSP00000366684.1:p.Arg1261=
ENST00000400907.6:c.1641A>G	ENSP00000383699.2:p.Arg547=
ENST00000400908.6:c.4587A>G	ENSP00000383700.2:p.Arg1529=
ENST00000476556.5:c.2925A>G	ENSP00000422246.1:p.Arg975=
NM_001042681.1:c.4587A>G	NP_001036146.1:p.Arg1529=
NM_001042682.1:c.2925A>G	NP_001036147.1:p.Arg975=
NM_012102.3:c.4587A>G	NP_036234.3:p.Arg1529=
XM_005263464.1:c.4587A>G	XP_005263521.1:p.Arg1529=
XM_005263466.1:c.3783A>G	XP_005263523.1:p.Arg1261=
XM_006710653.1:c.4587A>G	XP_006710716.1:p.Arg1529=
XM_011541510.1:c.4461A>G	XP_011539812.1:p.Arg1487=
XM_005263464.2:c.4587A>G	XP_005263521.1:p.Arg1529=
XM_011541510.2:c.4461A>G	XP_011539812.1:p.Arg1487=
XM_017001358.1:c.4587A>G	XP_016856847.1:p.Arg1529=
XM_017001359.1:c.4587A>G	XP_016856848.1:p.Arg1529=
NM_001042681.2:c.4587A>G MANE Select	NP_001036146.1:p.Arg1529=
NM_001042682.2:c.2925A>G	NP_001036147.1:p.Arg975=
NM_012102.4:c.4587A>G	NP_036234.3:p.Arg1529=