Canonical Allele Identifier: CA17693031

Gene: RERE

Linked Data

• dbSNP Id: rs1013617469
• gnomAD v2: 1-8481978-T-G
• gnomAD v3: 1-8421918-T-G
• gnomAD v4: 1-8421918-T-G
• MyVariant Identifiers: chr1:g.8481978T>G (hg19) ; chr1:g.8421918T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8421918T>G , CM000663.2:g.8421918T>G	GRCh38
NC_000001.10:g.8481978T>G , CM000663.1:g.8481978T>G	GRCh37
NC_000001.9:g.8404565T>G	NCBI36
NG_047035.1:g.400774A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000465125.2:c.-379+809A>C	ENSP00000515651.1:n.-379+809A>C
ENST00000400908.7:c.1284+809A>C MANE Select	ENSP00000383700.2:n.1284+809A>C
ENST00000656437.1:c.1284+809A>C	ENSP00000499322.1:n.1284+809A>C
ENST00000337907.7:c.1284+809A>C	ENSP00000338629.3:n.1284+809A>C
ENST00000377464.5:c.480+809A>C	ENSP00000366684.1:n.480+809A>C
ENST00000400907.6:c.1284+809A>C	ENSP00000383699.2:n.1284+809A>C
ENST00000400908.6:c.1284+809A>C	ENSP00000383700.2:n.1284+809A>C
ENST00000460659.5:n.334+809A>C
ENST00000465125.1:n.301+809A>C
ENST00000476556.5:c.-379+809A>C	ENSP00000422246.1:n.-379+809A>C
ENST00000488215.5:c.-379+809A>C	ENSP00000464847.1:n.-379+809A>C
ENST00000492766.5:n.268+809A>C
NM_001042681.1:c.1284+809A>C	NP_001036146.1:n.1284+809A>C
NM_001042682.1:c.-379+809A>C	NP_001036147.1:n.-379+809A>C
NM_012102.3:c.1284+809A>C	NP_036234.3:n.1284+809A>C
XM_005263464.1:c.1284+809A>C	XP_005263521.1:n.1284+809A>C
XM_005263466.1:c.480+809A>C	XP_005263523.1:n.480+809A>C
XM_006710653.1:c.1284+809A>C	XP_006710716.1:n.1284+809A>C
XM_011541510.1:c.1158+809A>C	XP_011539812.1:n.1158+809A>C
XM_011541511.1:c.1284+809A>C	XP_011539813.1:n.1284+809A>C
XM_005263464.2:c.1284+809A>C	XP_005263521.1:n.1284+809A>C
XM_011541510.2:c.1158+809A>C	XP_011539812.1:n.1158+809A>C
XM_011541511.2:c.1284+809A>C	XP_011539813.1:n.1284+809A>C
XM_017001358.1:c.1284+809A>C	XP_016856847.1:n.1284+809A>C
XM_017001359.1:c.1284+809A>C	XP_016856848.1:n.1284+809A>C
NM_001042681.2:c.1284+809A>C MANE Select	NP_001036146.1:n.1284+809A>C
NM_001042682.2:c.-379+809A>C	NP_001036147.1:n.-379+809A>C
NM_012102.4:c.1284+809A>C	NP_036234.3:n.1284+809A>C