Canonical Allele Identifier: CA570751

Gene: RERE

Linked Data

• ClinVar Variation Id: 2150683
• ClinVar RCV Id: RCV003083490
• dbSNP Id: rs146159811
• ExAC: 1:8415627 T / C
• gnomAD v2: 1-8415627-T-C
• gnomAD v3: 1-8355567-T-C
• gnomAD v4: 1-8355567-T-C
• MyVariant Identifiers: chr1:g.8415627T>C (hg19) ; chr1:g.8355567T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8355567T>C , CM000663.2:g.8355567T>C	GRCh38
NC_000001.10:g.8415627T>C , CM000663.1:g.8415627T>C	GRCh37
NC_000001.9:g.8338214T>C	NCBI36
NG_047035.1:g.467125A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.2857A>G	ENSP00000515651.1:p.Ile953Val
ENST00000400908.7:c.4519A>G MANE Select	ENSP00000383700.2:p.Ile1507Val
ENST00000337907.7:c.4519A>G	ENSP00000338629.3:p.Ile1507Val
ENST00000377464.5:c.3715A>G	ENSP00000366684.1:p.Ile1239Val
ENST00000400907.6:c.1573A>G	ENSP00000383699.2:p.Ile525Val
ENST00000400908.6:c.4519A>G	ENSP00000383700.2:p.Ile1507Val
ENST00000476556.5:c.2857A>G	ENSP00000422246.1:p.Ile953Val
ENST00000505225.1:c.487A>G	ENSP00000423451.1:p.Ile163Val
NM_001042681.1:c.4519A>G	NP_001036146.1:p.Ile1507Val
NM_001042682.1:c.2857A>G	NP_001036147.1:p.Ile953Val
NM_012102.3:c.4519A>G	NP_036234.3:p.Ile1507Val
XM_005263464.1:c.4519A>G	XP_005263521.1:p.Ile1507Val
XM_005263466.1:c.3715A>G	XP_005263523.1:p.Ile1239Val
XM_006710653.1:c.4519A>G	XP_006710716.1:p.Ile1507Val
XM_011541510.1:c.4393A>G	XP_011539812.1:p.Ile1465Val
XM_005263464.2:c.4519A>G	XP_005263521.1:p.Ile1507Val
XM_011541510.2:c.4393A>G	XP_011539812.1:p.Ile1465Val
XM_017001358.1:c.4519A>G	XP_016856847.1:p.Ile1507Val
XM_017001359.1:c.4519A>G	XP_016856848.1:p.Ile1507Val
NM_001042681.2:c.4519A>G MANE Select	NP_001036146.1:p.Ile1507Val
NM_001042682.2:c.2857A>G	NP_001036147.1:p.Ile953Val
NM_012102.4:c.4519A>G	NP_036234.3:p.Ile1507Val