Canonical Allele Identifier: CA571094

Gene: RERE

Linked Data

• ClinVar Variation Id: 717670
• ClinVar RCV Id: RCV000890500 ; RCV003151187
• dbSNP Id: rs149634880
• ExAC: 1:8419854 T / C
• gnomAD v2: 1-8419854-T-C
• gnomAD v3: 1-8359794-T-C
• gnomAD v4: 1-8359794-T-C
• COSMIC: COSM1344515
• MyVariant Identifiers: chr1:g.8419854T>C (hg19) ; chr1:g.8419854_8419866delinsCCGCTCCCGCTCC (hg19) ; chr1:g.8359794T>C (hg38) ; chr1:g.8359794_8359806delinsCCGCTCCCGCTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359794T>C , CM000663.2:g.8359794T>C	GRCh38
NC_000001.10:g.8419854T>C , CM000663.1:g.8419854T>C	GRCh37
NC_000001.9:g.8342441T>C	NCBI36
NG_047035.1:g.462898A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1926A>G	ENSP00000515651.1:p.Arg642=
ENST00000400908.7:c.3588A>G MANE Select	ENSP00000383700.2:p.Arg1196=
ENST00000337907.7:c.3588A>G	ENSP00000338629.3:p.Arg1196=
ENST00000377464.5:c.2784A>G	ENSP00000366684.1:p.Arg928=
ENST00000400907.6:c.1541-4195A>G	ENSP00000383699.2:n.1541-4195A>G
ENST00000400908.6:c.3588A>G	ENSP00000383700.2:p.Arg1196=
ENST00000476556.5:c.1926A>G	ENSP00000422246.1:p.Arg642=
ENST00000505225.1:c.307+1666A>G	ENSP00000423451.1:n.307+1666A>G
NM_001042681.1:c.3588A>G	NP_001036146.1:p.Arg1196=
NM_001042682.1:c.1926A>G	NP_001036147.1:p.Arg642=
NM_012102.3:c.3588A>G	NP_036234.3:p.Arg1196=
XM_005263464.1:c.3588A>G	XP_005263521.1:p.Arg1196=
XM_005263466.1:c.2784A>G	XP_005263523.1:p.Arg928=
XM_006710653.1:c.3588A>G	XP_006710716.1:p.Arg1196=
XM_011541510.1:c.3462A>G	XP_011539812.1:p.Arg1154=
XM_011541511.1:c.3395+318A>G	XP_011539813.1:n.3395+318A>G
XM_005263464.2:c.3588A>G	XP_005263521.1:p.Arg1196=
XM_011541510.2:c.3462A>G	XP_011539812.1:p.Arg1154=
XM_011541511.2:c.3395+318A>G	XP_011539813.1:n.3395+318A>G
XM_017001358.1:c.3588A>G	XP_016856847.1:p.Arg1196=
XM_017001359.1:c.3588A>G	XP_016856848.1:p.Arg1196=
NM_001042681.2:c.3588A>G MANE Select	NP_001036146.1:p.Arg1196=
NM_001042682.2:c.1926A>G	NP_001036147.1:p.Arg642=
NM_012102.4:c.3588A>G	NP_036234.3:p.Arg1196=