Canonical Allele Identifier: CA338170782
Gene: RERE HGNC NCBI

Linked Data

ClinVar Variation Id: 587517
ClinVar RCV Id: RCV000714713
dbSNP Id: rs1557585339
gnomAD v4: 1-8360161-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8360161G>T , CM000663.2:g.8360161G>T GRCh38
NC_000001.10:g.8420221G>T , CM000663.1:g.8420221G>T GRCh37
NC_000001.9:g.8342808G>T NCBI36
NG_047035.1:g.462531C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.1684C>A ENSP00000515651.1:p.Pro562Thr
ENST00000400908.7:c.3346C>A MANE Select ENSP00000383700.2:p.Pro1116Thr
ENST00000337907.7:c.3346C>A ENSP00000338629.3:p.Pro1116Thr
ENST00000377464.5:c.2542C>A ENSP00000366684.1:p.Pro848Thr
ENST00000400907.6:c.1541-4562C>A ENSP00000383699.2:n.1541-4562C>A
ENST00000400908.6:c.3346C>A ENSP00000383700.2:p.Pro1116Thr
ENST00000476556.5:c.1684C>A ENSP00000422246.1:p.Pro562Thr
ENST00000505225.1:c.307+1299C>A ENSP00000423451.1:n.307+1299C>A
NM_001042681.1:c.3346C>A NP_001036146.1:p.Pro1116Thr
NM_001042682.1:c.1684C>A NP_001036147.1:p.Pro562Thr
NM_012102.3:c.3346C>A NP_036234.3:p.Pro1116Thr
XM_005263464.1:c.3346C>A XP_005263521.1:p.Pro1116Thr
XM_005263466.1:c.2542C>A XP_005263523.1:p.Pro848Thr
XM_006710653.1:c.3346C>A XP_006710716.1:p.Pro1116Thr
XM_011541510.1:c.3220C>A XP_011539812.1:p.Pro1074Thr
XM_011541511.1:c.3346C>A XP_011539813.1:p.Pro1116Thr
XM_005263464.2:c.3346C>A XP_005263521.1:p.Pro1116Thr
XM_011541510.2:c.3220C>A XP_011539812.1:p.Pro1074Thr
XM_011541511.2:c.3346C>A XP_011539813.1:p.Pro1116Thr
XM_017001358.1:c.3346C>A XP_016856847.1:p.Pro1116Thr
XM_017001359.1:c.3346C>A XP_016856848.1:p.Pro1116Thr
NM_001042681.2:c.3346C>A MANE Select NP_001036146.1:p.Pro1116Thr
NM_001042682.2:c.1684C>A NP_001036147.1:p.Pro562Thr
NM_012102.4:c.3346C>A NP_036234.3:p.Pro1116Thr