Canonical Allele Identifier: CA571216

Gene: RERE

Linked Data

• ClinVar Variation Id: 445388
• ClinVar RCV Id: RCV000514226
• dbSNP Id: rs370962200
• ExAC: 1:8420319 C / A
• gnomAD v2: 1-8420319-C-A
• gnomAD v3: 1-8360259-C-A
• gnomAD v4: 1-8360259-C-A
• MyVariant Identifiers: chr1:g.8420319C>A (hg19) ; chr1:g.8360259C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8360259C>A , CM000663.2:g.8360259C>A	GRCh38
NC_000001.10:g.8420319C>A , CM000663.1:g.8420319C>A	GRCh37
NC_000001.9:g.8342906C>A	NCBI36
NG_047035.1:g.462433G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1586G>T	ENSP00000515651.1:p.Gly529Val
ENST00000400908.7:c.3248G>T MANE Select	ENSP00000383700.2:p.Gly1083Val
ENST00000337907.7:c.3248G>T	ENSP00000338629.3:p.Gly1083Val
ENST00000377464.5:c.2444G>T	ENSP00000366684.1:p.Gly815Val
ENST00000400907.6:c.1540+4487G>T	ENSP00000383699.2:n.1540+4487G>T
ENST00000400908.6:c.3248G>T	ENSP00000383700.2:p.Gly1083Val
ENST00000476556.5:c.1586G>T	ENSP00000422246.1:p.Gly529Val
ENST00000505225.1:c.307+1201G>T	ENSP00000423451.1:n.307+1201G>T
NM_001042681.1:c.3248G>T	NP_001036146.1:p.Gly1083Val
NM_001042682.1:c.1586G>T	NP_001036147.1:p.Gly529Val
NM_012102.3:c.3248G>T	NP_036234.3:p.Gly1083Val
XM_005263464.1:c.3248G>T	XP_005263521.1:p.Gly1083Val
XM_005263466.1:c.2444G>T	XP_005263523.1:p.Gly815Val
XM_006710653.1:c.3248G>T	XP_006710716.1:p.Gly1083Val
XM_011541510.1:c.3122G>T	XP_011539812.1:p.Gly1041Val
XM_011541511.1:c.3248G>T	XP_011539813.1:p.Gly1083Val
XM_005263464.2:c.3248G>T	XP_005263521.1:p.Gly1083Val
XM_011541510.2:c.3122G>T	XP_011539812.1:p.Gly1041Val
XM_011541511.2:c.3248G>T	XP_011539813.1:p.Gly1083Val
XM_017001358.1:c.3248G>T	XP_016856847.1:p.Gly1083Val
XM_017001359.1:c.3248G>T	XP_016856848.1:p.Gly1083Val
NM_001042681.2:c.3248G>T MANE Select	NP_001036146.1:p.Gly1083Val
NM_001042682.2:c.1586G>T	NP_001036147.1:p.Gly529Val
NM_012102.4:c.3248G>T	NP_036234.3:p.Gly1083Val