Canonical Allele Identifier: CA338170258

Gene: RERE

Linked Data

• dbSNP Id: rs1431471435
• gnomAD v3: 1-8359793-C-T
• gnomAD v4: 1-8359793-C-T
• MyVariant Identifiers: chr1:g.8419853C>T (hg19) ; chr1:g.8359793C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359793C>T , CM000663.2:g.8359793C>T	GRCh38
NC_000001.10:g.8419853C>T , CM000663.1:g.8419853C>T	GRCh37
NC_000001.9:g.8342440C>T	NCBI36
NG_047035.1:g.462899G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1927G>A	ENSP00000515651.1:p.Glu643Lys
ENST00000400908.7:c.3589G>A MANE Select	ENSP00000383700.2:p.Glu1197Lys
ENST00000337907.7:c.3589G>A	ENSP00000338629.3:p.Glu1197Lys
ENST00000377464.5:c.2785G>A	ENSP00000366684.1:p.Glu929Lys
ENST00000400907.6:c.1541-4194G>A	ENSP00000383699.2:n.1541-4194G>A
ENST00000400908.6:c.3589G>A	ENSP00000383700.2:p.Glu1197Lys
ENST00000476556.5:c.1927G>A	ENSP00000422246.1:p.Glu643Lys
ENST00000505225.1:c.307+1667G>A	ENSP00000423451.1:n.307+1667G>A
NM_001042681.1:c.3589G>A	NP_001036146.1:p.Glu1197Lys
NM_001042682.1:c.1927G>A	NP_001036147.1:p.Glu643Lys
NM_012102.3:c.3589G>A	NP_036234.3:p.Glu1197Lys
XM_005263464.1:c.3589G>A	XP_005263521.1:p.Glu1197Lys
XM_005263466.1:c.2785G>A	XP_005263523.1:p.Glu929Lys
XM_006710653.1:c.3589G>A	XP_006710716.1:p.Glu1197Lys
XM_011541510.1:c.3463G>A	XP_011539812.1:p.Glu1155Lys
XM_011541511.1:c.3395+319G>A	XP_011539813.1:n.3395+319G>A
XM_005263464.2:c.3589G>A	XP_005263521.1:p.Glu1197Lys
XM_011541510.2:c.3463G>A	XP_011539812.1:p.Glu1155Lys
XM_011541511.2:c.3395+319G>A	XP_011539813.1:n.3395+319G>A
XM_017001358.1:c.3589G>A	XP_016856847.1:p.Glu1197Lys
XM_017001359.1:c.3589G>A	XP_016856848.1:p.Glu1197Lys
NM_001042681.2:c.3589G>A MANE Select	NP_001036146.1:p.Glu1197Lys
NM_001042682.2:c.1927G>A	NP_001036147.1:p.Glu643Lys
NM_012102.4:c.3589G>A	NP_036234.3:p.Glu1197Lys