Canonical Allele Identifier: CA338168966
Gene: RERE HGNC NCBI

Linked Data

ClinVar Variation Id: 1331515
ClinVar RCV Id: RCV001806859
dbSNP Id: rs2124359266
gnomAD v4: 1-8358317-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8358317C>T , CM000663.2:g.8358317C>T GRCh38
NC_000001.10:g.8418377C>T , CM000663.1:g.8418377C>T GRCh37
NC_000001.9:g.8340964C>T NCBI36
NG_047035.1:g.464375G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.2556G>A ENSP00000515651.1:p.Met852Ile
ENST00000400908.7:c.4218G>A MANE Select ENSP00000383700.2:p.Met1406Ile
ENST00000337907.7:c.4218G>A ENSP00000338629.3:p.Met1406Ile
ENST00000377464.5:c.3414G>A ENSP00000366684.1:p.Met1138Ile
ENST00000400907.6:c.1541-2718G>A ENSP00000383699.2:n.1541-2718G>A
ENST00000400908.6:c.4218G>A ENSP00000383700.2:p.Met1406Ile
ENST00000476556.5:c.2556G>A ENSP00000422246.1:p.Met852Ile
ENST00000505225.1:c.308-2071G>A ENSP00000423451.1:n.308-2071G>A
NM_001042681.1:c.4218G>A NP_001036146.1:p.Met1406Ile
NM_001042682.1:c.2556G>A NP_001036147.1:p.Met852Ile
NM_012102.3:c.4218G>A NP_036234.3:p.Met1406Ile
XM_005263464.1:c.4218G>A XP_005263521.1:p.Met1406Ile
XM_005263466.1:c.3414G>A XP_005263523.1:p.Met1138Ile
XM_006710653.1:c.4218G>A XP_006710716.1:p.Met1406Ile
XM_011541510.1:c.4092G>A XP_011539812.1:p.Met1364Ile
XM_005263464.2:c.4218G>A XP_005263521.1:p.Met1406Ile
XM_011541510.2:c.4092G>A XP_011539812.1:p.Met1364Ile
XM_017001358.1:c.4218G>A XP_016856847.1:p.Met1406Ile
XM_017001359.1:c.4218G>A XP_016856848.1:p.Met1406Ile
NM_001042681.2:c.4218G>A MANE Select NP_001036146.1:p.Met1406Ile
NM_001042682.2:c.2556G>A NP_001036147.1:p.Met852Ile
NM_012102.4:c.4218G>A NP_036234.3:p.Met1406Ile